Rh > RHCE
Quick Filter: | |||||||||
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nt change | aa change | Location | hg19 | hg38 | rsNum | ||||
c.482insT | p.Asn162Glnfs37* | Exon 3 | chr1:None | chr1:None | |||||
c.93insT | p.Thr32Tyrfs*3 | Exon 1 | chr1:None | chr1:None | |||||
c.1-10C>T | 5’UTR None | chr1:25747287 | chr1:25420796 | rs369957834 | |||||
c.28C>T | p.Arg10Trp | Exon 1 | chr1:25747250 | chr1:25420759 | rs749601047 | ||||
c.48G>C | p.Trp16Cys | Exon 1 | chr1:25747230 | chr1:25420739 | |||||
c.79_81delCTC | p.Leu27del | Exon 1 | chr1:25747197 | chr1:25420706 | rs1233711406 | ||||
c.80_84delTCTTC | p.Tyr29Phefs*5 | Exon 1 | chr1:25747194 | chr1:25420703 | |||||
c.84C>A | p.Phe28Leu | Exon 1 | chr1:25747194 | chr1:25420703 | |||||
c.80_84del | Exon 1 | chr1:25747194 | chr1:25420703 | ||||||
c.94A>G | p.Thr32Ala | Exon 1 | chr1:25747184 | chr1:25420693 | rs760999674 | ||||
c.93_94insT | Exon 1 | chr1:25747184 | chr1:25420693 | rs1361013513 | |||||
c.98A>C | p.His33Pro | Exon 1 | chr1:25747180 | chr1:25420689 | |||||
c.105C>T | p.Asp35Asp | Exon 2 | chr1:25747173 | chr1:25420682 | rs142971926 | ||||
c.106G>A | p.Ala36Thr | Exon 1 | chr1:25747172 | chr1:25420681 | rs145034271 | ||||
c.114A>C | p.Leu38Phe | Exon 2 | chr1:25747164 | chr1:25420673 | |||||
c.122A>G | p.Gln41Arg | Exon 1 | chr1:25747156 | chr1:25420665 | rs138268848 | ||||
c.148G>A | p.Val50Ile | Exon 1 | chr1:25747130 | chr1:25420639 | |||||
c.148+5G>A | Intron 1 | chr1:25747125 | chr1:25420634 | rs756955857 | |||||
c.149-1G>A | Intron 1 | chr1:25735361 | chr1:25408870 | ||||||
c.150C>T | p.Val50Val | Exon 2 | chr1:25735359 | chr1:25408868 | rs200955066 | ||||
c.178C>A | p.Leu60Ile | Exon 2 | chr1:25735331 | chr1:25408840 | rs181860403 | ||||
c.186G>T | p.Leu62Phe | Exon 3 | chr1:25735323 | chr1:25408832 | rs113982491 | ||||
c.187G>C | p.Gly63Arg | Exon 2 | chr1:25735322 | chr1:25408831 | |||||
c.200C>A | p.Ser67* | Exon 2 | chr1:25735309 | chr1:25408818 | |||||
c.201A>G | p.Ser67Ser | Exon 2 | chr1:25735308 | chr1:25408817 | rs1053343 | ||||
c.202A>G | p.Asn68Asp | Exon 2 | chr1:25735307 | chr1:25408816 | rs772058645 | ||||
c.203A>G | p.Asn68Ser | Exon 2 | chr1:25735306 | chr1:25408815 | rs1053344 | ||||
c.208C>T | p.Arg70Trp | Exon 2 | chr1:25735301 | chr1:25408810 | rs1239729684 | ||||
c.221G>A | p.Trp74* | Exon 2 | chr1:25735288 | chr1:25408797 | rs1044945369 | ||||
c.254C>G | p.Ala85Gly | Exon 2 | chr1:25735255 | chr1:25408764 | rs57992529 | ||||
c.286G>A | p.Gly96Ser | Exon 2 | chr1:25735223 | chr1:25408732 | rs144348222 | ||||
c.307C>T | p.Pro103Ser | Exon 2 | chr1:25735202 | chr1:25408711 | rs676785 | ||||
c.308C>T | p.Pro103Leu | Exon 2 | chr1:25735201 | chr1:25408710 | rs747882675 | ||||
c.335+3A>T | Intron 2 | chr1:25735171 | chr1:25408680 | ||||||
c.336-2A>G | p.Arg120_Ser122del | Intron 2 | chr1:25729239 | chr1:25402748 | |||||
c.340C>T | p.Arg114Trp | Exon 3 | chr1:25729233 | chr1:25402742 | rs148487630 | ||||
c.341G>A | p.Arg114Gln | Exon 3 | chr1:25729232 | chr1:25402741 | rs1238030431 | ||||
c.344T>C | p.Leu115Pro | Exon 3 | chr1:25729229 | chr1:25402738 | |||||
c.344T>G | p.Leu115Arg | Exon 3 | chr1:25729229 | chr1:25402738 | |||||
c.356G>A | p.Ser119Asn | Exon 3 | chr1:25729217 | chr1:25402726 | rs777819701 | ||||
c.350_358delCCATGAGTG | p.Arg120_Ser122del | Exon 3 | chr1:25729215 | chr1:25402724 | |||||
c.350_358del | Exon 3 | chr1:25729215 | chr1:25402724 | ||||||
c.361A>T | p.Met121Leu | Exon 3 | chr1:25729212 | chr1:25402721 | rs1053345 | ||||
c.364T>C | p.Ser122Pro | Exon 3 | chr1:25729209 | chr1:25402718 | |||||
c.365C>T | p.Ser122Leu | Exon 3 | chr1:25729208 | chr1:25402717 | rs201407774 | ||||
c.366delG | p.Val123Cysfs*1 | Exon 3 | chr1:25729207 | chr1:25402716 | |||||
c.374T>A | p.Ile125Asn | Exon 3 | chr1:25729199 | chr1:25402708 | |||||
c.375C>G | p.Ile125Met | Exon 3 | chr1:25729198 | chr1:25402707 | rs143715642 | ||||
c.377C>G | p.Ser126* | Exon 3 | chr1:25729196 | chr1:25402705 | rs1193854324 | ||||
c.380C>T | p.Ala127Val | Exon 3 | chr1:25729193 | chr1:25402702 | rs1053346 | ||||
c.380C>A | p.Ala127Glu | Exon 3 | chr1:25729193 | chr1:25402702 | rs1053346 | ||||
c.382G>C | p.Gly128Arg | Exon 3 | chr1:25729191 | chr1:25402700 | |||||
c.383G>A | p.Gly128Asp | Exon 3 | chr1:25729190 | chr1:25402699 | rs1053347 | ||||
c.410C>T | p.Ala137Val | Exon 5 | chr1:25729163 | chr1:25402672 | rs199509194 | ||||
c.455C>A | p.Thr152Asn | Exon 3 | chr1:25729118 | chr1:25402627 | rs35109888 | ||||
c.460A>G | p.Arg154Gly | Exon 3 | chr1:25729113 | chr1:25402622 | rs755299894 | ||||
c.461G>C | p.Arg154Thr | Exon 3 | chr1:25729112 | chr1:25402621 | rs747471048 | ||||
c.462G>T | p.Arg154Ser | Exon 3 | chr1:25729111 | chr1:25402620 | |||||
c.464T>G | p.Met155Arg | Exon 3 | chr1:25729109 | chr1:25402618 | |||||
c.473G>A | p.Ser158Asn | Exon 3 | chr1:25729100 | chr1:25402609 | rs758173067 | ||||
c.477T>G | p.Asn159Lys | Exon 3 | chr1:25729096 | chr1:25402605 | rs1360017813 | ||||
c.486+1G>A | Intron 3 | chr1:25729086 | chr1:25402595 | rs753832633 | |||||
c.486+5G>A | Intron 3 | chr1:25729082 | chr1:25402591 | ||||||
c.487-5T>G | Intron 3 | chr1:25718637 | chr1:25392146 | rs776819527 | |||||
c.491A>G | p.Asp164Gly | Exon 4 | chr1:25718628 | chr1:25392137 | rs548044758 | ||||
c.494A>C | p.Tyr165Ser | Exon 4 | chr1:25718625 | chr1:25392134 | rs746303049 | ||||
c.497A>T | p.His166Leu | Exon 4 | chr1:25718622 | chr1:25392131 | |||||
c.499A>G | p.Met167Val | Exon 4 | chr1:25718620 | chr1:25392129 | rs779408591 | ||||
c.500T>A | p.Met167Lys | Exon 4 | chr1:25718619 | chr1:25392128 | rs140421430 | ||||
c.501G>A | p.Met167Ile | Exon 4 | chr1:25718618 | chr1:25392127 | |||||
c.505C>A | p.Leu169Met | Exon 4 | chr1:25718614 | chr1:25392123 | rs1020280601 | ||||
c.506T>A | p.Leu169Gln | Exon 4 | chr1:25718613 | chr1:25392122 | rs1310627729 | ||||
c.506T>C | p.Leu169Pro | Exon 4 | chr1:25718613 | chr1:25392122 | rs1310627729 | ||||
c.508A>G | p.Arg170Gly | Exon 4 | chr1:25718611 | chr1:25392120 | |||||
c.509G>T | p.Arg170Met | Exon 4 | chr1:25718610 | chr1:25392119 | rs987753117 | ||||
c.512A>G | p.His171Arg | Exon 4 | chr1:25718607 | chr1:25392116 | rs781037009 | ||||
c.514T>A | p.Phe172Ile | Exon 4 | chr1:25718605 | chr1:25392114 | rs1053349 | ||||
c.520G>A | p.Val174Met | Exon 4 | chr1:25718599 | chr1:25392108 | rs146306079 | ||||
c.526G>A | p.Ala176Thr | Exon 4 | chr1:25718593 | chr1:25392102 | rs753965768 | ||||
c.527C>T | p.Ala176Val | Exon 4 | chr1:25718592 | chr1:25392101 | |||||
c.538G>C | p.Gly180Arg | Exon 4 | chr1:25718581 | chr1:25392090 | |||||
c.544A>T | Exon 4 | chr1:25718575 | chr1:25392084 | rs1053350 | |||||
c.554G>A | p.Trp185* | Exon 4 | chr1:25718565 | chr1:25392074 | rs1395012563 | ||||
c.569_572dupCTCT | p.Pro192Serfs*8 | Exon 4 | chr1:25718547 | chr1:25392056 | |||||
c.577A>G | Exon 4 | chr1:25718542 | chr1:25392051 | rs1384157219 | |||||
c.594T>A | Exon 4 | chr1:25718525 | chr1:25392034 | rs1053354 | |||||
c.602G>A | Exon 4 | chr1:25718517 | chr1:25392026 | rs141398055 | |||||
c.602G>C | p.Arg201Thr | Exon 4 | chr1:25718517 | chr1:25392026 | rs141398055 | ||||
c.634+1G>T | Intron 4 | chr1:25718484 | chr1:25391993 | ||||||
c.635-9G>A | Intron 4 | chr1:25717415 | chr1:25390924 | rs767724106 | |||||
c.649T>C | p.Trp217Arg | Exon 5 | chr1:25717392 | chr1:25390901 | |||||
c.659G>A | p.Trp220* | Exon 5 | chr1:25717382 | chr1:25390891 | rs1256174405 | ||||
c.662C>G | p.Pro221Arg | Exon 5 | chr1:25717379 | chr1:25390888 | rs1281139377 | ||||
c.667G>T | p.Val223Phe | Exon 5 | chr1:25717374 | chr1:25390883 | rs147357308 | ||||
c.674C>G | p.Ser225Cys | Exon 5 | chr1:25717367 | chr1:25390876 | rs200087488 | ||||
c.676G>C | p.Ala226Pro | Exon 5 | chr1:25717365 | chr1:25390874 | rs609320 | ||||
c.676delG | p.Ala226Leufs*3 | Exon 5 | chr1:25717365 | chr1:25390874 | rs609320 | ||||
c.679_683delCTGCT | p.Leu227Glufs*89 | Exon 5 | chr1:25717358 | chr1:25390867 | |||||
c.685_687delAGA | Exon 5 | chr1:25717354 | chr1:25390863 | ||||||
c.689G>C | p.Ser230Thr | Exon 5 | chr1:25717352 | chr1:25390861 | rs1330038292 | ||||
c.687_689delAAG | p.Arg229del | Exon 5 | chr1:25717352 | chr1:25390861 | rs1437180947 | ||||
c.695T>C | p.Ile232Thr | Exon 5 | chr1:25717346 | chr1:25390855 | rs926360108 | ||||
c.697C>G | p.Gln233Glu | Exon 5 | chr1:25717344 | chr1:25390853 | rs142246017 | ||||
c.712A>G | p.Met238Val | Exon 5 | chr1:25717329 | chr1:25390838 | rs144163296 | ||||
c.722C>T | p.Thr241Ile | Exon 5 | chr1:25717319 | chr1:25390828 | rs751751505 | ||||
c.728A>G | p.Tyr243Cys | Exon 5 | chr1:25717313 | chr1:25390822 | rs555090649 | ||||
c.730G>A | p.Ala244Thr | Exon 5 | chr1:25717311 | chr1:25390820 | rs1307519228 | ||||
c.733C>G | p.Leu245Val | Exon 5 | chr1:25717308 | chr1:25390817 | rs1053361 | ||||
c.734T>C | p.Leu245Pro | Exon 5 | chr1:25717307 | chr1:25390816 | |||||
c.744T>C | p.Ser248Ser | Exon 5 | chr1:25717297 | chr1:25390806 | rs149352457 | ||||
c.748G>A | p.Val250Met | Exon 5 | chr1:25717293 | chr1:25390802 | rs1029541644 | ||||
c.774T>A | Exon 5 | chr1:25717267 | chr1:25390776 | ||||||
c.787A>G | p.Arg263Gly | Exon 5 | chr1:25717254 | chr1:25390763 | rs1132763 | ||||
c.800T>A | p.Met267Lys | Exon 5 | chr1:25717241 | chr1:25390750 | rs1132764 | ||||
c.801+1G>A | Intron 5 | chr1:25717239 | chr1:25390748 | ||||||
c.807T>A | p.Tyr269* | Exon 6 | chr1:25715599 | chr1:25389108 | rs780267740 | ||||
c.818C>T | p.Ala273Val | Exon 6 | chr1:25715588 | chr1:25389097 | rs147094099 | ||||
c.818C>A | p.Ala273Glu | Exon 6 | chr1:25715588 | chr1:25389097 | |||||
c.827C>A | p.Ala276Glu | Exon 6 | chr1:25715579 | chr1:25389088 | |||||
c.872C>T | p.Pro291Leu | Exon 6 | chr1:25715534 | chr1:25389043 | rs374399829 | ||||
c.890T>C | p.Leu297Pro | Exon 6 | chr1:25715516 | chr1:25389025 | rs763017817 | ||||
c.907delC | p.Leu303* | Exon 6 | chr1:25715499 | chr1:25389008 | rs747976226 | ||||
c.908T>A | p.Leu303Gln | Exon 6 | chr1:25715498 | chr1:25389007 | |||||
c.916A>G | p.Ile306Val | Exon 6 | chr1:25715490 | chr1:25388999 | rs1132765 | ||||
c.919G>A | p.Gly307Arg | Exon 6 | chr1:25715487 | chr1:25388996 | rs200950594 | ||||
c.938delC | p.Pro313Argfs*46 | Exon 6 | chr1:25715468 | chr1:25388977 | |||||
c.939G>A | p.Pro313Pro | Exon 6 | chr1:25715467 | chr1:25388976 | rs754703211 | ||||
c.941T>C | p.Val314Ala | Exon 7 | chr1:25712334 | chr1:25385843 | rs79321360 | ||||
c.963delG | p.Iso322Phefs*37 | Exon 7 | chr1:25712312 | chr1:25385821 | |||||
c.966_968delinsC | p.His323Profs*77 | Exon 7 | chr1:25712307 | chr1:25385816 | |||||
c.1006G>T | p.Gly336Cys | Exon 7 | chr1:25712269 | chr1:25385778 | rs116261244 | ||||
c.1007G>A | p.Gly336Asp | Exon 7 | chr1:25712268 | chr1:25385777 | rs760319839 | ||||
c.1007G>T | p.Gly336Val | Exon 7 | chr1:25712268 | chr1:25385777 | rs760319839 | ||||
c.1025C>T | p.Thr342Ile | Exon 7 | chr1:25712250 | chr1:25385759 | rs1053374 | ||||
c.1044_1050dupGCTTCAT | p.Thr351Alafs*52 | Exon 7 | chr1:25712225 | chr1:25385734 | |||||
c.1059delG | p.Trp353* | Exon 4 | chr1:25712216 | chr1:25385725 | |||||
c.1074-2A>G | Intron 7 | chr1:25701921 | chr1:25375430 | ||||||
c.1118C>T | p.Ala373Val | Exon 8 | chr1:25701875 | chr1:25375384 | rs1269230597 | ||||
c.1130A>T | p.Ala377Val | Exon 8 | chr1:25701863 | chr1:25375372 | |||||
c.1132C>G | p.Leu378Val | Exon 8 | chr1:25701861 | chr1:25375370 | rs138917454 | ||||
c.1154-1G>A | Intron 8 | chr1:25697032 | chr1:25370541 | ||||||
c.1154G>C | p.Gly385Ala | Exon 9 | chr1:25697031 | chr1:25370540 | rs1412021250 | ||||
c.1154G>T | p.Gly385Val | Exon 9 | chr1:25697031 | chr1:25370540 | rs1412021250 | ||||
c.1170C>T | p.Leu390Leu | Exon 9 | chr1:25697015 | chr1:25370524 | rs630931 | ||||
c.1193T>A | p.Val398Glu | Exon 9 | chr1:25696992 | chr1:25370501 | rs630612 | ||||
c.1228-2A>G | Intron 9 | chr1:25689046 | chr1:25362555 | ||||||
c.1254A>C | p.Ter418Tyr | Exon 10 | chr1:25689018 | chr1:25362527 |
Rh blood group CcEe antigens | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Chromosome: | chr1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
Strand: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic ref.: | NG_009208.3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
Transcript ref.: | NM_020485.8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
Protein ref.: | NP_065231.3 NP_619522.3 NP_619523.3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
Entrez GeneID: | 6006 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
Uniprot ID: | P18577 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
Further links: | GTEx Portal, gnomAD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
hg19: |
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hg38: |
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