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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511434T>G;81511436A>T;81511440C>G;81511477G>T;81511488C>G] , CM000679.2:g.[81511434T>G;81511436A>T;81511440C>G;81511477G>T;81511488C>G] | GRCh38 |
| NC_000017.10:g.[79478460T>G;79478462A>T;79478466C>G;79478503G>T;79478514C>G] , CM000679.1:g.[79478460T>G;79478462A>T;79478466C>G;79478503G>T;79478514C>G] | GRCh37 |
| NC_000017.9:g.[77093055T>G;77093057A>T;77093061C>G;77093098G>T;77093109C>G] | NCBI36 |
| NG_011433.1:g.[6314G>C;6325C>A;6362G>C;6366T>A;6368A>C] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | ENSP00000466346.2:p.[Gly168Arg;Leu171=;Asp184His;Leu185_Thr18... | |
| ENST00000571691.6:c.[430G>C;441C>A;478G>C;482T>A;484A>C] | ENSP00000461407.2:p.[Gly144Arg;Leu147=;Asp160His;Leu161_Thr16... | |
| ENST00000571721.6:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | ENSP00000460660.2:p.[Gly168Arg;Leu171=;Asp184His;Leu185_Thr18... | |
| ENST00000572105.7:c.[543G>C;554C>A;591G>C;595T>A;597A>C] | ENSP00000462823.1:p.[Arg181Ser;Ser185Tyr;Gly197=;Ter199Ile] | |
| ENST00000573283.7:c.[502G>C;513C>A;550G>C;554T>A;556A>C] MANE Select | ENSP00000458435.1:p.[Gly168Arg;Leu171=;Asp184His;Leu185_Thr18... | |
| ENST00000574671.6:n.[902G>C;913C>A;950G>C;954T>A;956A>C] | ||
| ENST00000575659.6:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | ENSP00000459119.2:p.[Gly168Arg;Leu171=;Asp184His;Leu185Gln;Th... | |
| ENST00000575994.6:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | ENSP00000460464.2:p.[Gly168Arg;Leu171=;Asp184His;Leu185Gln;Th... | |
| ENST00000576214.3:n.[803G>C;814C>A;851G>C;855T>A;857A>C] | ||
| ENST00000576544.6:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | ENSP00000461672.1:p.[Gly168Arg;Leu171=;Asp184His;Leu185Gln;Th... | |
| ENST00000615544.5:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | ENSP00000477968.1:p.[Gly168Arg;Leu171=;Asp184His;Leu185Gln;Th... | |
| ENST00000644774.2:c.[475G>C;486C>A;523G>C;527T>A;529A>C] | ENSP00000493648.2:p.[Gly159Arg;Leu162=;Asp175His;Leu176_Thr17... | |
| ENST00000679410.1:n.[626G>C;637C>A;674G>C;678T>A;680A>C] | ||
| ENST00000679480.1:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | ENSP00000506201.1:p.[Gly168Arg;Leu171=;Asp184His;Leu185Gln;Th... | |
| ENST00000679535.1:n.[803G>C;814C>A;851G>C;855T>A;857A>C] | ||
| ENST00000679778.1:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | ENSP00000505235.1:p.[Gly168Arg;Leu171=;Asp184His;Leu185Gln;Th... | |
| ENST00000680227.1:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | ENSP00000506253.1:p.[Gly168Arg;Leu171=;Asp184His;Leu185_Thr18... | |
| ENST00000680727.1:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | ENSP00000505193.1:p.[Gly168Arg;Leu171=;Asp184His;Leu185_Thr18... | |
| ENST00000681052.1:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | ENSP00000505060.1:p.[Gly168Arg;Leu171=;Asp184His;Leu185Gln;Th... | |
| ENST00000681092.1:c.[*306G>C;*317C>A;*354G>C;*358T>A;*360A>C] | ENSP00000506720.1:n.[*306G>C;*317C>A;*354G>C;*358T>A;*360A>C]... | |
| ENST00000681842.1:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | ENSP00000506126.1:p.[Gly168Arg;Leu171=;Asp184His;Leu185_Thr18... | |
| ENST00000331925.6:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | ENSP00000331514.2:p.[Gly168Arg;Leu171=;Asp184His;Leu185_Thr18... | |
| ENST00000571691.5:c.[475G>C;486C>A;523G>C;527T>A;529A>C] | ENSP00000461407.1:p.[Gly159Arg;Leu162=;Asp175His;Leu176_Thr17... | |
| ENST00000572105.6:c.[543G>C;554C>A;591G>C;595T>A;597A>C] | ENSP00000462823.1:p.[Arg181Ser;Ser185Tyr;Gly197=;Ter199Arg;Te... | |
| ENST00000573283.5:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | ENSP00000458435.1:p.[Gly168Arg;Leu171=;Asp184His;Leu185Gln;Th... | |
| ENST00000574671.5:n.[361G>C;372C>A;409G>C;413T>A;415A>C] | ||
| ENST00000575087.5:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | ENSP00000459124.1:p.[Gly168Arg;Leu171=;Asp184His;Leu185Gln;Th... | |
| ENST00000575659.5:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | ENSP00000459119.1:p.[Gly168Arg;Leu171=;Asp184His;Leu185Gln;Th... | |
| ENST00000575842.5:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | ENSP00000458162.1:p.[Gly168Arg;Leu171=;Asp184His;Leu185Gln;Th... | |
| ENST00000575994.5:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | ENSP00000460464.1:p.[Gly168Arg;Leu171=;Asp184His;Leu185Gln;Th... | |
| ENST00000576209.5:n.[387G>C;398C>A;435G>C;439T>A;441A>C] | ||
| ENST00000576214.2:n.[700G>C;711C>A;748G>C;752T>A;754A>C] | ||
| ENST00000576544.5:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | ENSP00000461672.1:p.[Gly168Arg;Leu171=;Asp184His;Leu185Gln;Th... | |
| ENST00000576917.5:n.[555G>C;566C>A;603G>C;607T>A;609A>C] | ||
| ENST00000615544.4:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | ENSP00000477968.1:p.[Gly168Arg;Leu171=;Asp184His;Leu185Gln;Th... | |
| NM_001199954.1:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | NP_001186883.1:p.[Gly168Arg;Leu171=;Asp184His;Leu185_Thr186de... | |
| NM_001614.3:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | NP_001605.1:p.[Gly168Arg;Leu171=;Asp184His;Leu185Gln;Thr186Pr... | |
| NR_037688.1:n.[641G>C;652C>A;689G>C;693T>A;695A>C] | ||
| NM_001199954.2:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | NP_001186883.1:p.[Gly168Arg;Leu171=;Asp184His;Leu185Gln;Thr18... | |
| NM_001614.4:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | NP_001605.1:p.[Gly168Arg;Leu171=;Asp184His;Leu185_Thr186delin... | |
| NR_037688.2:n.[574G>C;585C>A;622G>C;626T>A;628A>C] | ||
| NM_001614.5:c.[502G>C;513C>A;550G>C;554T>A;556A>C] MANE Select | NP_001605.1:p.[Gly168Arg;Leu171=;Asp184His;Leu185_Thr186delin... | |
| NR_037688.3:n.[574G>C;585C>A;622G>C;626T>A;628A>C] | ||
| NM_001199954.3:c.[502G>C;513C>A;550G>C;554T>A;556A>C] | NP_001186883.1:p.[Gly168Arg;Leu171=;Asp184His;Leu185Gln;Thr18... |