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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511511G>C;81511537A>C;81511544G>C;81511552C>G;81511557A>G;81511574A>T] , CM000679.2:g.[81511511G>C;81511537A>C;81511544G>C;81511552C>G;81511557A>G;81511574A>T] | GRCh38 |
| NC_000017.10:g.[79478537G>C;79478563A>C;79478570G>C;79478578C>G;79478583A>G;79478600A>T] , CM000679.1:g.[79478537G>C;79478563A>C;79478570G>C;79478578C>G;79478583A>G;79478600A>T] | GRCh37 |
| NC_000017.9:g.[77093132G>C;77093158A>C;77093165G>C;77093173C>G;77093178A>G;77093195A>T] | NCBI36 |
| NG_011433.1:g.[6228T>A;6245T>C;6250G>C;6258C>G;6265T>G;6291C>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | ENSP00000466346.2:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Il... | |
| ENST00000571691.6:c.[344T>A;361T>C;366G>C;374C>G;381T>G;407C>G] | ENSP00000461407.2:p.[Val115Glu;Ser121Pro;Gly122=;Thr125Ser;Il... | |
| ENST00000571721.6:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | ENSP00000460660.2:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Il... | |
| ENST00000572105.7:c.[457T>A;474T>C;479G>C;487C>G;494T>G;520C>G] | ENSP00000462823.1:p.[Cys153Ser;Pro158=;Gly160Ala;Leu163Val;Le... | |
| ENST00000573283.7:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] MANE Select | ENSP00000458435.1:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Il... | |
| ENST00000574671.6:n.[816T>A;833T>C;838G>C;846C>G;853T>G;879C>G] | ||
| ENST00000575659.6:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | ENSP00000459119.2:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Il... | |
| ENST00000575994.6:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | ENSP00000460464.2:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Il... | |
| ENST00000576214.3:n.[717T>A;734T>C;739G>C;747C>G;754T>G;780C>G] | ||
| ENST00000576544.6:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | ENSP00000461672.1:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Il... | |
| ENST00000615544.5:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | ENSP00000477968.1:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Il... | |
| ENST00000644774.2:c.[389T>A;406T>C;411G>C;419C>G;426T>G;452C>G] | ENSP00000493648.2:p.[Val130Glu;Ser136Pro;Gly137=;Thr140Ser;Il... | |
| ENST00000679410.1:n.[540T>A;557T>C;562G>C;570C>G;577T>G;603C>G] | ||
| ENST00000679480.1:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | ENSP00000506201.1:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Il... | |
| ENST00000679535.1:n.[717T>A;734T>C;739G>C;747C>G;754T>G;780C>G] | ||
| ENST00000679778.1:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | ENSP00000505235.1:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Il... | |
| ENST00000680227.1:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | ENSP00000506253.1:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Il... | |
| ENST00000680727.1:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | ENSP00000505193.1:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Il... | |
| ENST00000681052.1:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | ENSP00000505060.1:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Il... | |
| ENST00000681092.1:c.[*220T>A;*237T>C;*242G>C;*250C>G;*257T>G;*283C>G] | ENSP00000506720.1:n.[*220T>A;*237T>C;*242G>C;*250C>G;*257T>G;... | |
| ENST00000681842.1:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | ENSP00000506126.1:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Il... | |
| ENST00000331925.6:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | ENSP00000331514.2:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Il... | |
| ENST00000571691.5:c.[389T>A;406T>C;411G>C;419C>G;426T>G;452C>G] | ENSP00000461407.1:p.[Val130Glu;Ser136Pro;Gly137=;Thr140Ser;Il... | |
| ENST00000571721.5:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | ENSP00000460660.1:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Il... | |
| ENST00000572105.6:c.[457T>A;474T>C;479G>C;487C>G;494T>G;520C>G] | ENSP00000462823.1:p.[Cys153Ser;Pro158=;Gly160Ala;Leu163Val;Le... | |
| ENST00000573283.5:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | ENSP00000458435.1:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Il... | |
| ENST00000574671.5:n.[275T>A;292T>C;297G>C;305C>G;312T>G;338C>G] | ||
| ENST00000575087.5:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | ENSP00000459124.1:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Il... | |
| ENST00000575659.5:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | ENSP00000459119.1:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Il... | |
| ENST00000575842.5:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | ENSP00000458162.1:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Il... | |
| ENST00000575994.5:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | ENSP00000460464.1:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Il... | |
| ENST00000576209.5:n.[301T>A;318T>C;323G>C;331C>G;338T>G;364C>G] | ||
| ENST00000576214.2:n.[614T>A;631T>C;636G>C;644C>G;651T>G;677C>G] | ||
| ENST00000576544.5:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | ENSP00000461672.1:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Il... | |
| ENST00000576917.5:n.[469T>A;486T>C;491G>C;499C>G;506T>G;532C>G] | ||
| ENST00000615544.4:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | ENSP00000477968.1:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Il... | |
| NM_001199954.1:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | NP_001186883.1:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Ile15... | |
| NM_001614.3:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | NP_001605.1:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Ile151Me... | |
| NR_037688.1:n.[555T>A;572T>C;577G>C;585C>G;592T>G;618C>G] | ||
| NM_001199954.2:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | NP_001186883.1:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Ile15... | |
| NM_001614.4:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | NP_001605.1:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Ile151Me... | |
| NR_037688.2:n.[488T>A;505T>C;510G>C;518C>G;525T>G;551C>G] | ||
| NM_001614.5:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] MANE Select | NP_001605.1:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Ile151Me... | |
| NR_037688.3:n.[488T>A;505T>C;510G>C;518C>G;525T>G;551C>G] | ||
| NM_001199954.3:c.[416T>A;433T>C;438G>C;446C>G;453T>G;479C>G] | NP_001186883.1:p.[Val139Glu;Ser145Pro;Gly146=;Thr149Ser;Ile15... |