Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.[81511489C>T;81511491C>G;81511520T>C] , CM000679.2:g.[81511489C>T;81511491C>G;81511520T>C]	GRCh38
NC_000017.10:g.[79478515C>T;79478517C>G;79478546T>C] , CM000679.1:g.[79478515C>T;79478517C>G;79478546T>C]	GRCh37
NC_000017.9:g.[77093110C>T;77093112C>G;77093141T>C]	NCBI36
NG_011433.1:g.[6282A>G;6311G>C;6313G>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.[470A>G;499G>C;501G>A]	ENSP00000466346.2:p.[Asp157Gly;Glu167Gln;Glu167=]
ENST00000571691.6:c.[398A>G;427G>C;429G>A]	ENSP00000461407.2:p.[Asp133Gly;Glu143Gln;Glu143=]
ENST00000571721.6:c.[470A>G;499G>C;501G>A]	ENSP00000460660.2:p.[Asp157Gly;Glu167Gln;Glu167=]
ENST00000572105.7:c.[511A>G;540G>C;542G>A]	ENSP00000462823.1:p.[Thr171Ala;Thr180=;Arg181Lys]
ENST00000573283.7:c.[470A>G;499G>C;501G>A] MANE Select	ENSP00000458435.1:p.[Asp157Gly;Glu167Gln;Glu167=]
ENST00000574671.6:n.[870A>G;899G>C;901G>A]
ENST00000575659.6:c.[470A>G;499G>C;501G>A]	ENSP00000459119.2:p.[Asp157Gly;Glu167Pro]
ENST00000575994.6:c.[470A>G;499G>C;501G>A]	ENSP00000460464.2:p.[Asp157Gly;Glu167Gln;Glu167=]
ENST00000576214.3:n.[771A>G;800G>C;802G>A]
ENST00000576544.6:c.[470A>G;499G>C;501G>A]	ENSP00000461672.1:p.[Asp157Gly;Glu167Gln]
ENST00000615544.5:c.[470A>G;499G>C;501G>A]	ENSP00000477968.1:p.[Asp157Gly;Glu167Gln;Glu167=]
ENST00000644774.2:c.[443A>G;472G>C;474G>A]	ENSP00000493648.2:p.[Asp148Gly;Glu158Gln;Glu158=]
ENST00000679410.1:n.[594A>G;623G>C;625G>A]
ENST00000679480.1:c.[470A>G;499G>C;501G>A]	ENSP00000506201.1:p.[Asp157Gly;Glu167Gln;Glu167=]
ENST00000679535.1:n.[771A>G;800G>C;802G>A]
ENST00000679778.1:c.[470A>G;499G>C;501G>A]	ENSP00000505235.1:p.[Asp157Gly;Glu167Arg]
ENST00000680227.1:c.[470A>G;499G>C;501G>A]	ENSP00000506253.1:p.[Asp157Gly;Glu167Gln;Glu167=]
ENST00000680727.1:c.[470A>G;499G>C;501G>A]	ENSP00000505193.1:p.[Asp157Gly;Glu167Gln;Glu167=]
ENST00000681052.1:c.[470A>G;499G>C;501G>A]	ENSP00000505060.1:p.[Asp157Gly;Glu167Gln;Glu167=]
ENST00000681092.1:c.[274A>G;303G>C;*305G>A]	ENSP00000506720.1:n.[274A>G;303G>C;*305G>A]
ENST00000681842.1:c.[470A>G;499G>C;501G>A]	ENSP00000506126.1:p.[Asp157Gly;Glu167Gln;Glu167=]
ENST00000331925.6:c.[470A>G;499G>C;501G>A]	ENSP00000331514.2:p.[Asp157Gly;Glu167Gln;Glu167=]
ENST00000571691.5:c.[443A>G;472G>C;474G>A]	ENSP00000461407.1:p.[Asp148Gly;Glu158Gln;Glu158=]
ENST00000572105.6:c.[511A>G;540G>C;542G>A]	ENSP00000462823.1:p.[Thr171Ala;Thr180=;Arg181Lys]
ENST00000573283.5:c.[470A>G;499G>C;501G>A]	ENSP00000458435.1:p.[Asp157Gly;Glu167Leu]
ENST00000574671.5:n.[329A>G;358G>C;360G>A]
ENST00000575087.5:c.[470A>G;499G>C;501G>A]	ENSP00000459124.1:p.[Asp157Gly;Glu167Gln;Glu167=]
ENST00000575659.5:c.[470A>G;499G>C;501G>A]	ENSP00000459119.1:p.[Asp157Gly;Glu167Pro]
ENST00000575842.5:c.[470A>G;499G>C;501G>A]	ENSP00000458162.1:p.[Asp157Gly;Glu167Leu]
ENST00000575994.5:c.[470A>G;499G>C;501G>A]	ENSP00000460464.1:p.[Asp157Gly;Glu167Gln;Glu167=]
ENST00000576209.5:n.[355A>G;384G>C;386G>A]
ENST00000576214.2:n.[668A>G;697G>C;699G>A]
ENST00000576544.5:c.[470A>G;499G>C;501G>A]	ENSP00000461672.1:p.[Asp157Gly;Glu167Gln]
ENST00000576917.5:n.[523A>G;552G>C;554G>A]
ENST00000615544.4:c.[470A>G;499G>C;501G>A]	ENSP00000477968.1:p.[Asp157Gly;Glu167Gln]
NM_001199954.1:c.[470A>G;499G>C;501G>A]	NP_001186883.1:p.[Asp157Gly;Glu167Gln;Glu167=]
NM_001614.3:c.[470A>G;499G>C;501G>A]	NP_001605.1:p.[Asp157Gly;Glu167Gln]
NR_037688.1:n.[609A>G;638G>C;640G>A]
NM_001199954.2:c.[470A>G;499G>C;501G>A]	NP_001186883.1:p.[Asp157Gly;Glu167Gln;Glu167=]
NM_001614.4:c.[470A>G;499G>C;501G>A]	NP_001605.1:p.[Asp157Gly;Glu167Gln;Glu167=]
NR_037688.2:n.[542A>G;571G>C;573G>A]
NM_001614.5:c.[470A>G;499G>C;501G>A] MANE Select	NP_001605.1:p.[Asp157Gly;Glu167Gln;Glu167=]
NR_037688.3:n.[542A>G;571G>C;573G>A]
NM_001199954.3:c.[470A>G;499G>C;501G>A]	NP_001186883.1:p.[Asp157Gly;Glu167Gln;Glu167=]