Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617051A>T , CM000673.2:g.6617051A>T	GRCh38
NC_000011.9:g.6638282A>T , CM000673.1:g.6638282A>T	GRCh37
NC_000011.8:g.6594858A>T	NCBI36
NG_008653.1:g.7411T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.497T>A	ENSP00000507321.1:p.Val166Glu
ENST00000299427.12:c.611T>A MANE Select	ENSP00000299427.6:p.Val204Glu
ENST00000436873.7:c.312+250T>A
ENST00000524788.2:n.1770T>A
ENST00000524903.2:n.1886T>A
ENST00000528807.2:n.267T>A
ENST00000530040.2:n.479+308T>A
ENST00000533371.6:c.-119T>A	ENSP00000437066.1:n.-119T>A
ENST00000534644.6:n.559T>A
ENST00000642892.1:c.-119T>A	ENSP00000494165.1:n.-119T>A
ENST00000643439.1:c.*351T>A	ENSP00000495849.1:n.*351T>A
ENST00000643479.1:n.640T>A
ENST00000643516.1:c.395+250T>A
ENST00000644151.1:n.2050T>A
ENST00000644218.1:c.611T>A	ENSP00000493574.1:p.Val204Glu
ENST00000644683.1:c.*64T>A	ENSP00000494085.1:n.*64T>A
ENST00000644810.1:c.332T>A	ENSP00000495895.1:p.Val111Glu
ENST00000644831.1:n.787T>A
ENST00000644933.1:c.-119T>A	ENSP00000496133.1:n.-119T>A
ENST00000645020.1:n.1786T>A
ENST00000645285.1:c.-119T>A	ENSP00000495058.1:n.-119T>A
ENST00000645331.1:n.977T>A
ENST00000645620.1:c.-119T>A	ENSP00000493657.1:n.-119T>A
ENST00000646777.1:n.787T>A
ENST00000647016.1:n.1091T>A
ENST00000647152.1:c.-119T>A	ENSP00000495893.1:n.-119T>A
ENST00000647209.1:c.*480T>A	ENSP00000495558.1:n.*480T>A
ENST00000647346.1:n.1631T>A
ENST00000299427.10:c.611T>A	ENSP00000299427.6:p.Val204Glu
ENST00000428886.6:n.780T>A
ENST00000436873.6:c.450+308T>A	ENSP00000398136.2:n.450+308T>A
ENST00000524788.1:n.311T>A
ENST00000528571.5:c.*351T>A	ENSP00000434647.1:n.*351T>A
ENST00000528807.1:n.161T>A
ENST00000533371.5:c.-119T>A	ENSP00000437066.1:n.-119T>A
ENST00000534644.5:n.596T>A
ENST00000611494.4:c.611T>A	ENSP00000484546.1:p.Val204Glu
NM_000391.3:c.611T>A	NP_000382.3:p.Val204Glu
NM_000391.4:c.611T>A MANE Select	NP_000382.3:p.Val204Glu

Linked Data

Genomic Alleles

Transcript Alleles