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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511436A>G;81511444G>C;81511483G>A;81511485A>T;81511488C>G] , CM000679.2:g.[81511436A>G;81511444G>C;81511483G>A;81511485A>T;81511488C>G] | GRCh38 |
| NC_000017.10:g.[79478462A>G;79478470G>C;79478509G>A;79478511A>T;79478514C>G] , CM000679.1:g.[79478462A>G;79478470G>C;79478509G>A;79478511A>T;79478514C>G] | GRCh37 |
| NC_000017.9:g.[77093057A>G;77093065G>C;77093104G>A;77093106A>T;77093109C>G] | NCBI36 |
| NG_011433.1:g.[6314G>C;6317T>A;6319C>T;6358C>G;6366T>C] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | ENSP00000466346.2:p.[Gly168Arg;Tyr169Asn;Tyr169=;Gly182=;Leu1... | |
| ENST00000571691.6:c.[430G>C;433T>A;435C>T;474C>G;482T>C] | ENSP00000461407.2:p.[Gly144Arg;Tyr145Asn;Tyr145=;Gly158=;Leu1... | |
| ENST00000571721.6:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | ENSP00000460660.2:p.[Gly168Arg;Tyr169Asn;Tyr169=;Gly182=;Leu1... | |
| ENST00000572105.7:c.[543G>C;546T>A;548C>T;587C>G;595T>C] | ENSP00000462823.1:p.[Arg181Ser;Ala182=;Thr183Met;Ala196Gly;Te... | |
| ENST00000573283.7:c.[502G>C;505T>A;507C>T;546C>G;554T>C] MANE Select | ENSP00000458435.1:p.[Gly168Arg;Tyr169Asn;Tyr169=;Gly182=;Leu1... | |
| ENST00000574671.6:n.[902G>C;905T>A;907C>T;946C>G;954T>C] | ||
| ENST00000575659.6:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | ENSP00000459119.2:p.[Gly168Arg;Tyr169Thr;Gly182=;Leu185Pro] | |
| ENST00000575994.6:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | ENSP00000460464.2:p.[Gly168Arg;Tyr169Asn;Tyr169=;Gly182=;Leu1... | |
| ENST00000576214.3:n.[803G>C;806T>A;808C>T;847C>G;855T>C] | ||
| ENST00000576544.6:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | ENSP00000461672.1:p.[Gly168Arg;Tyr169Ile;Gly182=;Leu185Pro] | |
| ENST00000615544.5:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | ENSP00000477968.1:p.[Gly168Arg;Tyr169Asn;Tyr169=;Gly182=;Leu1... | |
| ENST00000644774.2:c.[475G>C;478T>A;480C>T;519C>G;527T>C] | ENSP00000493648.2:p.[Gly159Arg;Tyr160Asn;Tyr160=;Gly173=;Leu1... | |
| ENST00000679410.1:n.[626G>C;629T>A;631C>T;670C>G;678T>C] | ||
| ENST00000679480.1:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | ENSP00000506201.1:p.[Gly168Arg;Tyr169Asn;Tyr169=;Gly182=;Leu1... | |
| ENST00000679535.1:n.[803G>C;806T>A;808C>T;847C>G;855T>C] | ||
| ENST00000679778.1:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | ENSP00000505235.1:p.[Gly168Arg;Tyr169Ser;Gly182=;Leu185Pro] | |
| ENST00000680227.1:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | ENSP00000506253.1:p.[Gly168Arg;Tyr169Asn;Tyr169=;Gly182=;Leu1... | |
| ENST00000680727.1:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | ENSP00000505193.1:p.[Gly168Arg;Tyr169Asn;Tyr169=;Gly182=;Leu1... | |
| ENST00000681052.1:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | ENSP00000505060.1:p.[Gly168Arg;Tyr169Asn;Tyr169=;Gly182=;Leu1... | |
| ENST00000681092.1:c.[*306G>C;*309T>A;*311C>T;*350C>G;*358T>C] | ENSP00000506720.1:n.[*306G>C;*309T>A;*311C>T;*350C>G;*358T>C]... | |
| ENST00000681842.1:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | ENSP00000506126.1:p.[Gly168Arg;Tyr169Asn;Tyr169=;Gly182=;Leu1... | |
| ENST00000331925.6:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | ENSP00000331514.2:p.[Gly168Arg;Tyr169Asn;Tyr169=;Gly182=;Leu1... | |
| ENST00000571691.5:c.[475G>C;478T>A;480C>T;519C>G;527T>C] | ENSP00000461407.1:p.[Gly159Arg;Tyr160Asn;Tyr160=;Gly173=;Leu1... | |
| ENST00000572105.6:c.[543G>C;546T>A;548C>T;587C>G;595T>C] | ENSP00000462823.1:p.[Arg181Ser;Ala182=;Thr183Met;Ala196Gly;Te... | |
| ENST00000573283.5:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | ENSP00000458435.1:p.[Gly168Arg;Tyr169Ser;Gly182=;Leu185Pro] | |
| ENST00000574671.5:n.[361G>C;364T>A;366C>T;405C>G;413T>C] | ||
| ENST00000575087.5:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | ENSP00000459124.1:p.[Gly168Arg;Tyr169Asn;Tyr169=;Gly182=;Leu1... | |
| ENST00000575659.5:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | ENSP00000459119.1:p.[Gly168Arg;Tyr169Thr;Gly182=;Leu185Pro] | |
| ENST00000575842.5:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | ENSP00000458162.1:p.[Gly168Arg;Tyr169Ser;Gly182=;Leu185Pro] | |
| ENST00000575994.5:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | ENSP00000460464.1:p.[Gly168Arg;Tyr169Asn;Tyr169=;Gly182=;Leu1... | |
| ENST00000576209.5:n.[387G>C;390T>A;392C>T;431C>G;439T>C] | ||
| ENST00000576214.2:n.[700G>C;703T>A;705C>T;744C>G;752T>C] | ||
| ENST00000576544.5:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | ENSP00000461672.1:p.[Gly168Arg;Tyr169Ile;Gly182=;Leu185Pro] | |
| ENST00000576917.5:n.[555G>C;558T>A;560C>T;599C>G;607T>C] | ||
| ENST00000615544.4:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | ENSP00000477968.1:p.[Gly168Arg;Tyr169Ile;Gly182=;Leu185Pro] | |
| NM_001199954.1:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | NP_001186883.1:p.[Gly168Arg;Tyr169Asn;Tyr169=;Gly182=;Leu185P... | |
| NM_001614.3:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | NP_001605.1:p.[Gly168Arg;Tyr169Ile;Gly182=;Leu185Pro] | |
| NR_037688.1:n.[641G>C;644T>A;646C>T;685C>G;693T>C] | ||
| NM_001199954.2:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | NP_001186883.1:p.[Gly168Arg;Tyr169Asn;Tyr169=;Gly182=;Leu185P... | |
| NM_001614.4:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | NP_001605.1:p.[Gly168Arg;Tyr169Asn;Tyr169=;Gly182=;Leu185Pro]... | |
| NR_037688.2:n.[574G>C;577T>A;579C>T;618C>G;626T>C] | ||
| NM_001614.5:c.[502G>C;505T>A;507C>T;546C>G;554T>C] MANE Select | NP_001605.1:p.[Gly168Arg;Tyr169Asn;Tyr169=;Gly182=;Leu185Pro]... | |
| NR_037688.3:n.[574G>C;577T>A;579C>T;618C>G;626T>C] | ||
| NM_001199954.3:c.[502G>C;505T>A;507C>T;546C>G;554T>C] | NP_001186883.1:p.[Gly168Arg;Tyr169Asn;Tyr169=;Gly182=;Leu185P... |