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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511537A>C;81511571A>T;81511582G>C;81511591G=;81511606G>C] , CM000679.2:g.[81511537A>C;81511571A>T;81511582G>C;81511591G=;81511606G>C] | GRCh38 |
| NC_000017.10:g.[79478563A>C;79478597A>T;79478608G>C;79478617G=;79478632G>C] , CM000679.1:g.[79478563A>C;79478597A>T;79478608G>C;79478617G=;79478632G>C] | GRCh37 |
| NC_000017.9:g.[77093158A>C;77093192A>T;77093203G>C;77093212G=;77093227G>C] | NCBI36 |
| NG_011433.1:g.[6196C>G;6211C=;6220C>G;6231T>A;6265T>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[384C>G;399C=;408C>G;419T>A;453T>G] | ENSP00000466346.2:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Il... | |
| ENST00000571691.6:c.[340-28C>G;340-13C=;340-4C>G;347T>A;381T>G] | ENSP00000461407.2:p.[Leu116Gln;Ile127Met] | |
| ENST00000571721.6:c.[384C>G;399C=;408C>G;419T>A;453T>G] | ENSP00000460660.2:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Il... | |
| ENST00000572105.7:c.[425C>G;440C=;449C>G;460T>A;494T>G] | ENSP00000462823.1:p.[Thr142Arg;Thr147=;Ser150Cys;Cys154Ser;Le... | |
| ENST00000573283.7:c.[384C>G;399C=;408C>G;419T>A;453T>G] MANE Select | ENSP00000458435.1:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Il... | |
| ENST00000574671.6:n.[784C>G;799C=;808C>G;819T>A;853T>G] | ||
| ENST00000575659.6:c.[384C>G;399C=;408C>G;419T>A;453T>G] | ENSP00000459119.2:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Il... | |
| ENST00000575994.6:c.[384C>G;399C=;408C>G;419T>A;453T>G] | ENSP00000460464.2:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Il... | |
| ENST00000576214.3:n.[685C>G;700C=;709C>G;720T>A;754T>G] | ||
| ENST00000576544.6:c.[384C>G;399C=;408C>G;419T>A;453T>G] | ENSP00000461672.1:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Il... | |
| ENST00000615544.5:c.[384C>G;399C=;408C>G;419T>A;453T>G] | ENSP00000477968.1:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Il... | |
| ENST00000644774.2:c.[357C>G;372C=;381C>G;392T>A;426T>G] | ENSP00000493648.2:p.[Asn119Lys;Tyr124=;Ile127Met;Leu131Gln;Il... | |
| ENST00000679410.1:n.[508C>G;523C=;532C>G;543T>A;577T>G] | ||
| ENST00000679480.1:c.[384C>G;399C=;408C>G;419T>A;453T>G] | ENSP00000506201.1:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Il... | |
| ENST00000679535.1:n.[685C>G;700C=;709C>G;720T>A;754T>G] | ||
| ENST00000679778.1:c.[384C>G;399C=;408C>G;419T>A;453T>G] | ENSP00000505235.1:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Il... | |
| ENST00000680227.1:c.[384C>G;399C=;408C>G;419T>A;453T>G] | ENSP00000506253.1:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Il... | |
| ENST00000680727.1:c.[384C>G;399C=;408C>G;419T>A;453T>G] | ENSP00000505193.1:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Il... | |
| ENST00000681052.1:c.[384C>G;399C=;408C>G;419T>A;453T>G] | ENSP00000505060.1:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Il... | |
| ENST00000681092.1:c.[*188C>G;*203C=;*212C>G;*223T>A;*257T>G] | ENSP00000506720.1:n.[*188C>G;*203C=;*212C>G;*223T>A;*257T>G] | |
| ENST00000681842.1:c.[384C>G;399C=;408C>G;419T>A;453T>G] | ENSP00000506126.1:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Il... | |
| ENST00000331925.6:c.[384C>G;399C=;408C>G;419T>A;453T>G] | ENSP00000331514.2:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Il... | |
| ENST00000570382.1:c.[340-28C>G;340-13C=;340-4C>G;347T>A;381T>G] | ENSP00000466346.1:p.[Leu116Gln;Ile127Met] | |
| ENST00000571691.5:c.[357C>G;372C=;381C>G;392T>A;426T>G] | ENSP00000461407.1:p.[Asn119Lys;Tyr124=;Ile127Met;Leu131Gln;Il... | |
| ENST00000571721.5:c.[384C>G;399C=;408C>G;419T>A;453T>G] | ENSP00000460660.1:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Il... | |
| ENST00000572105.6:c.[425C>G;440C=;449C>G;460T>A;494T>G] | ENSP00000462823.1:p.[Thr142Arg;Thr147=;Ser150Cys;Cys154Ser;Le... | |
| ENST00000573283.5:c.[384C>G;399C=;408C>G;419T>A;453T>G] | ENSP00000458435.1:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Il... | |
| ENST00000574671.5:n.[243C>G;258C=;267C>G;278T>A;312T>G] | ||
| ENST00000575087.5:c.[384C>G;399C=;408C>G;419T>A;453T>G] | ENSP00000459124.1:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Il... | |
| ENST00000575659.5:c.[384C>G;399C=;408C>G;419T>A;453T>G] | ENSP00000459119.1:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Il... | |
| ENST00000575842.5:c.[384C>G;399C=;408C>G;419T>A;453T>G] | ENSP00000458162.1:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Il... | |
| ENST00000575994.5:c.[384C>G;399C=;408C>G;419T>A;453T>G] | ENSP00000460464.1:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Il... | |
| ENST00000576209.5:n.[269C>G;284C=;293C>G;304T>A;338T>G] | ||
| ENST00000576214.2:n.[582C>G;597C=;606C>G;617T>A;651T>G] | ||
| ENST00000576544.5:c.[384C>G;399C=;408C>G;419T>A;453T>G] | ENSP00000461672.1:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Il... | |
| ENST00000576917.5:n.[437C>G;452C=;461C>G;472T>A;506T>G] | ||
| ENST00000615544.4:c.[384C>G;399C=;408C>G;419T>A;453T>G] | ENSP00000477968.1:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Il... | |
| NM_001199954.1:c.[384C>G;399C=;408C>G;419T>A;453T>G] | NP_001186883.1:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Ile15... | |
| NM_001614.3:c.[384C>G;399C=;408C>G;419T>A;453T>G] | NP_001605.1:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Ile151Me... | |
| NR_037688.1:n.[523C>G;538C=;547C>G;558T>A;592T>G] | ||
| NM_001199954.2:c.[384C>G;399C=;408C>G;419T>A;453T>G] | NP_001186883.1:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Ile15... | |
| NM_001614.4:c.[384C>G;399C=;408C>G;419T>A;453T>G] | NP_001605.1:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Ile151Me... | |
| NR_037688.2:n.[456C>G;471C=;480C>G;491T>A;525T>G] | ||
| NM_001614.5:c.[384C>G;399C=;408C>G;419T>A;453T>G] MANE Select | NP_001605.1:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Ile151Me... | |
| NR_037688.3:n.[456C>G;471C=;480C>G;491T>A;525T>G] | ||
| NM_001199954.3:c.[384C>G;399C=;408C>G;419T>A;453T>G] | NP_001186883.1:p.[Asn128Lys;Tyr133=;Ile136Met;Leu140Gln;Ile15... |