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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511436A>G;81511446C>G;81511477G>T;81511479G>A;81511505G>C] , CM000679.2:g.[81511436A>G;81511446C>G;81511477G>T;81511479G>A;81511505G>C] | GRCh38 |
| NC_000017.10:g.[79478462A>G;79478472C>G;79478503G>T;79478505G>A;79478531G>C] , CM000679.1:g.[79478462A>G;79478472C>G;79478503G>T;79478505G>A;79478531G>C] | GRCh37 |
| NC_000017.9:g.[77093057A>G;77093067C>G;77093098G>T;77093100G>A;77093126G>C] | NCBI36 |
| NG_011433.1:g.[6297C>G;6323C>T;6325C>A;6356G>C;6366T>C] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | ENSP00000466346.2:p.[Thr162Arg;Leu171Phe;Leu171=;Gly182Arg;Le... | |
| ENST00000571691.6:c.[413C>G;439C>T;441C>A;472G>C;482T>C] | ENSP00000461407.2:p.[Thr138Arg;Leu147Phe;Leu147=;Gly158Arg;Le... | |
| ENST00000571721.6:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | ENSP00000460660.2:p.[Thr162Arg;Leu171Phe;Leu171=;Gly182Arg;Le... | |
| ENST00000572105.7:c.[526C>G;552C>T;554C>A;585G>C;595T>C] | ENSP00000462823.1:p.[Arg176Gly;Pro184=;Ser185Tyr;Leu195=;Ter1... | |
| ENST00000573283.7:c.[485C>G;511C>T;513C>A;544G>C;554T>C] MANE Select | ENSP00000458435.1:p.[Thr162Arg;Leu171Phe;Leu171=;Gly182Arg;Le... | |
| ENST00000574671.6:n.[885C>G;911C>T;913C>A;944G>C;954T>C] | ||
| ENST00000575659.6:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | ENSP00000459119.2:p.[Thr162Arg;Leu171=;Gly182Arg;Leu185Pro] | |
| ENST00000575994.6:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | ENSP00000460464.2:p.[Thr162Arg;Leu171Phe;Leu171=;Gly182Arg;Le... | |
| ENST00000576214.3:n.[786C>G;812C>T;814C>A;845G>C;855T>C] | ||
| ENST00000576544.6:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | ENSP00000461672.1:p.[Thr162Arg;Leu171Ser;Gly182Arg;Leu185Pro]... | |
| ENST00000615544.5:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | ENSP00000477968.1:p.[Thr162Arg;Leu171Phe;Leu171=;Gly182Arg;Le... | |
| ENST00000644774.2:c.[458C>G;484C>T;486C>A;517G>C;527T>C] | ENSP00000493648.2:p.[Thr153Arg;Leu162Phe;Leu162=;Gly173Arg;Le... | |
| ENST00000679410.1:n.[609C>G;635C>T;637C>A;668G>C;678T>C] | ||
| ENST00000679480.1:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | ENSP00000506201.1:p.[Thr162Arg;Leu171Phe;Leu171=;Gly182Arg;Le... | |
| ENST00000679535.1:n.[786C>G;812C>T;814C>A;845G>C;855T>C] | ||
| ENST00000679778.1:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | ENSP00000505235.1:p.[Thr162Arg;Leu171Ter] | |
| ENST00000680227.1:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | ENSP00000506253.1:p.[Thr162Arg;Leu171Phe;Leu171=;Gly182Arg;Le... | |
| ENST00000680727.1:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | ENSP00000505193.1:p.[Thr162Arg;Leu171Phe;Leu171=;Gly182Arg;Le... | |
| ENST00000681052.1:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | ENSP00000505060.1:p.[Thr162Arg;Leu171Phe;Leu171=;Gly182Arg;Le... | |
| ENST00000681092.1:c.[*289C>G;*315C>T;*317C>A;*348G>C;*358T>C] | ENSP00000506720.1:n.[*289C>G;*315C>T;*317C>A;*348G>C;*358T>C]... | |
| ENST00000681842.1:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | ENSP00000506126.1:p.[Thr162Arg;Leu171Phe;Leu171=;Gly182Arg;Le... | |
| ENST00000331925.6:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | ENSP00000331514.2:p.[Thr162Arg;Leu171Phe;Leu171=;Gly182Arg;Le... | |
| ENST00000571691.5:c.[458C>G;484C>T;486C>A;517G>C;527T>C] | ENSP00000461407.1:p.[Thr153Arg;Leu162Phe;Leu162=;Gly173Arg;Le... | |
| ENST00000572105.6:c.[526C>G;552C>T;554C>A;585G>C;595T>C] | ENSP00000462823.1:p.[Arg176Gly;Pro184=;Ser185Tyr;Leu195=;Ter1... | |
| ENST00000573283.5:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | ENSP00000458435.1:p.[Thr162Arg;Leu171Ter] | |
| ENST00000574671.5:n.[344C>G;370C>T;372C>A;403G>C;413T>C] | ||
| ENST00000575087.5:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | ENSP00000459124.1:p.[Thr162Arg;Leu171Phe;Leu171=;Gly182Arg;Le... | |
| ENST00000575659.5:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | ENSP00000459119.1:p.[Thr162Arg;Leu171=;Gly182Arg;Leu185Pro] | |
| ENST00000575842.5:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | ENSP00000458162.1:p.[Thr162Arg;Leu171Ser;Gly182Arg;Leu185Pro]... | |
| ENST00000575994.5:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | ENSP00000460464.1:p.[Thr162Arg;Leu171Phe;Leu171=;Gly182Arg;Le... | |
| ENST00000576209.5:n.[370C>G;396C>T;398C>A;429G>C;439T>C] | ||
| ENST00000576214.2:n.[683C>G;709C>T;711C>A;742G>C;752T>C] | ||
| ENST00000576544.5:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | ENSP00000461672.1:p.[Thr162Arg;Leu171Ser;Gly182Arg;Leu185Pro]... | |
| ENST00000576917.5:n.[538C>G;564C>T;566C>A;597G>C;607T>C] | ||
| ENST00000615544.4:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | ENSP00000477968.1:p.[Thr162Arg;Leu171Ser;Gly182Arg;Leu185Pro]... | |
| NM_001199954.1:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | NP_001186883.1:p.[Thr162Arg;Leu171Phe;Leu171=;Gly182Arg;Leu18... | |
| NM_001614.3:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | NP_001605.1:p.[Thr162Arg;Leu171Ser;Gly182Arg;Leu185Pro] | |
| NR_037688.1:n.[624C>G;650C>T;652C>A;683G>C;693T>C] | ||
| NM_001199954.2:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | NP_001186883.1:p.[Thr162Arg;Leu171Phe;Leu171=;Gly182Arg;Leu18... | |
| NM_001614.4:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | NP_001605.1:p.[Thr162Arg;Leu171Phe;Leu171=;Gly182Arg;Leu185Pr... | |
| NR_037688.2:n.[557C>G;583C>T;585C>A;616G>C;626T>C] | ||
| NM_001614.5:c.[485C>G;511C>T;513C>A;544G>C;554T>C] MANE Select | NP_001605.1:p.[Thr162Arg;Leu171Phe;Leu171=;Gly182Arg;Leu185Pr... | |
| NR_037688.3:n.[557C>G;583C>T;585C>A;616G>C;626T>C] | ||
| NM_001199954.3:c.[485C>G;511C>T;513C>A;544G>C;554T>C] | NP_001186883.1:p.[Thr162Arg;Leu171Phe;Leu171=;Gly182Arg;Leu18... |