This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511495G>C;81511497T=;81511513G>T;81511515C>A;81511525A>G;81511528G>T] , CM000679.2:g.[81511495G>C;81511497T=;81511513G>T;81511515C>A;81511525A>G;81511528G>T] | GRCh38 |
| NC_000017.10:g.[79478521G>C;79478523T=;79478539G>T;79478541C>A;79478551A>G;79478554G>T] , CM000679.1:g.[79478521G>C;79478523T=;79478539G>T;79478541C>A;79478551A>G;79478554G>T] | GRCh37 |
| NC_000017.9:g.[77093116G>C;77093118T=;77093134G>T;77093136C>A;77093146A>G;77093149G>T] | NCBI36 |
| NG_011433.1:g.[6274C>A;6277T>C;6287G>T;6289C>A;6305A=;6307C>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | ENSP00000466346.2:p.[Asp154Glu;Ser155=;Val159Phe;Val159=;Ile1... | |
| ENST00000571691.6:c.[390C>A;393T>C;403G>T;405C>A;421A=;423C>G] | ENSP00000461407.2:p.[Asp130Glu;Ser131=;Val135Phe;Val135=;Ile1... | |
| ENST00000571721.6:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | ENSP00000460660.2:p.[Asp154Glu;Ser155=;Val159Phe;Val159=;Ile1... | |
| ENST00000572105.7:c.[503C>A;506T>C;516G>T;518C>A;534A=;536C>G] | ENSP00000462823.1:p.[Thr168Asn;Leu169Pro;Gly172=;Ser173Ter] | |
| ENST00000573283.7:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] MANE Select | ENSP00000458435.1:p.[Asp154Glu;Ser155=;Val159Phe;Val159=;Ile1... | |
| ENST00000574671.6:n.[862C>A;865T>C;875G>T;877C>A;893A=;895C>G] | ||
| ENST00000575659.6:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | ENSP00000459119.2:p.[Asp154Glu;Ser155=;Val159Leu;Ile165Thr] | |
| ENST00000575994.6:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | ENSP00000460464.2:p.[Asp154Glu;Ser155=;Val159Phe;Val159=;Ile1... | |
| ENST00000576214.3:n.[763C>A;766T>C;776G>T;778C>A;794A=;796C>G] | ||
| ENST00000576544.6:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | ENSP00000461672.1:p.[Asp154Glu;Ser155=;Val159Ter] | |
| ENST00000615544.5:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | ENSP00000477968.1:p.[Asp154Glu;Ser155=;Val159Phe;Val159=;Ile1... | |
| ENST00000644774.2:c.[435C>A;438T>C;448G>T;450C>A;466A=;468C>G] | ENSP00000493648.2:p.[Asp145Glu;Ser146=;Val150Phe;Val150=;Ile1... | |
| ENST00000679410.1:n.[586C>A;589T>C;599G>T;601C>A;617A=;619C>G] | ||
| ENST00000679480.1:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | ENSP00000506201.1:p.[Asp154Glu;Ser155=;Val159Phe;Val159=;Ile1... | |
| ENST00000679535.1:n.[763C>A;766T>C;776G>T;778C>A;794A=;796C>G] | ||
| ENST00000679778.1:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | ENSP00000505235.1:p.[Asp154Glu;Ser155=;Val159Ter] | |
| ENST00000680227.1:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | ENSP00000506253.1:p.[Asp154Glu;Ser155=;Val159Phe;Val159=;Ile1... | |
| ENST00000680727.1:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | ENSP00000505193.1:p.[Asp154Glu;Ser155=;Val159Phe;Val159=;Ile1... | |
| ENST00000681052.1:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | ENSP00000505060.1:p.[Asp154Glu;Ser155=;Val159Phe;Val159=;Ile1... | |
| ENST00000681092.1:c.[*266C>A;*269T>C;*279G>T;*281C>A;*297A=;*299C>G] | ENSP00000506720.1:n.[*266C>A;*269T>C;*279G>T;*281C>A;*297A=;*... | |
| ENST00000681842.1:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | ENSP00000506126.1:p.[Asp154Glu;Ser155=;Val159Phe;Val159=;Ile1... | |
| ENST00000331925.6:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | ENSP00000331514.2:p.[Asp154Glu;Ser155=;Val159Phe;Val159=;Ile1... | |
| ENST00000571691.5:c.[435C>A;438T>C;448G>T;450C>A;466A=;468C>G] | ENSP00000461407.1:p.[Asp145Glu;Ser146=;Val150Phe;Val150=;Ile1... | |
| ENST00000572105.6:c.[503C>A;506T>C;516G>T;518C>A;534A=;536C>G] | ENSP00000462823.1:p.[Thr168Asn;Leu169Pro;Gly172=;Ser173Ter] | |
| ENST00000573283.5:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | ENSP00000458435.1:p.[Asp154Glu;Ser155=;Val159Ter] | |
| ENST00000574671.5:n.[321C>A;324T>C;334G>T;336C>A;352A=;354C>G] | ||
| ENST00000575087.5:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | ENSP00000459124.1:p.[Asp154Glu;Ser155=;Val159Phe;Val159=;Ile1... | |
| ENST00000575659.5:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | ENSP00000459119.1:p.[Asp154Glu;Ser155=;Val159Leu;Ile165Thr] | |
| ENST00000575842.5:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | ENSP00000458162.1:p.[Asp154Glu;Ser155=;Val159Ser;Ile165Thr] | |
| ENST00000575994.5:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | ENSP00000460464.1:p.[Asp154Glu;Ser155=;Val159Phe;Val159=;Ile1... | |
| ENST00000576209.5:n.[347C>A;350T>C;360G>T;362C>A;378A=;380C>G] | ||
| ENST00000576214.2:n.[660C>A;663T>C;673G>T;675C>A;691A=;693C>G] | ||
| ENST00000576544.5:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | ENSP00000461672.1:p.[Asp154Glu;Ser155=;Val159Ter] | |
| ENST00000576917.5:n.[515C>A;518T>C;528G>T;530C>A;546A=;548C>G] | ||
| ENST00000615544.4:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | ENSP00000477968.1:p.[Asp154Glu;Ser155=;Val159Ter] | |
| NM_001199954.1:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | NP_001186883.1:p.[Asp154Glu;Ser155=;Val159Phe;Val159=;Ile165=... | |
| NM_001614.3:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | NP_001605.1:p.[Asp154Glu;Ser155=;Val159Ter] | |
| NR_037688.1:n.[601C>A;604T>C;614G>T;616C>A;632A=;634C>G] | ||
| NM_001199954.2:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | NP_001186883.1:p.[Asp154Glu;Ser155=;Val159Phe;Val159=;Ile165=... | |
| NM_001614.4:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | NP_001605.1:p.[Asp154Glu;Ser155=;Val159Phe;Val159=;Ile165=;Il... | |
| NR_037688.2:n.[534C>A;537T>C;547G>T;549C>A;565A=;567C>G] | ||
| NM_001614.5:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] MANE Select | NP_001605.1:p.[Asp154Glu;Ser155=;Val159Phe;Val159=;Ile165=;Il... | |
| NR_037688.3:n.[534C>A;537T>C;547G>T;549C>A;565A=;567C>G] | ||
| NM_001199954.3:c.[462C>A;465T>C;475G>T;477C>A;493A=;495C>G] | NP_001186883.1:p.[Asp154Glu;Ser155=;Val159Phe;Val159=;Ile165=... |