Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617740A>T , CM000673.2:g.6617740A>T	GRCh38
NC_000011.9:g.6638971A>T , CM000673.1:g.6638971A>T	GRCh37
NC_000011.8:g.6595547A>T	NCBI36
NG_008653.1:g.6722T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.152T>A	ENSP00000507321.1:p.Val51Glu
ENST00000299427.12:c.266T>A MANE Select	ENSP00000299427.6:p.Val89Glu
ENST00000428886.7:n.354T>A
ENST00000436873.7:c.70T>A
ENST00000524788.2:n.1278T>A
ENST00000524903.2:n.1394T>A
ENST00000528571.6:c.*6T>A	ENSP00000434647.1:n.*6T>A
ENST00000530040.2:n.295T>A
ENST00000533371.6:c.-464T>A	ENSP00000437066.1:n.-464T>A
ENST00000534644.6:n.267T>A
ENST00000642892.1:c.-411T>A	ENSP00000494165.1:n.-411T>A
ENST00000643439.1:c.*6T>A	ENSP00000495849.1:n.*6T>A
ENST00000643479.1:n.295T>A
ENST00000643516.1:c.153T>A
ENST00000644151.1:n.1558T>A
ENST00000644218.1:c.266T>A	ENSP00000493574.1:p.Val89Glu
ENST00000644683.1:c.266T>A	ENSP00000494085.1:p.Val89Glu
ENST00000644810.1:c.230-587T>A	ENSP00000495895.1:n.230-587T>A
ENST00000644831.1:n.295T>A
ENST00000644933.1:c.-464T>A	ENSP00000496133.1:n.-464T>A
ENST00000645020.1:n.1294T>A
ENST00000645285.1:c.-464T>A	ENSP00000495058.1:n.-464T>A
ENST00000645331.1:n.288T>A
ENST00000645620.1:c.-406T>A	ENSP00000493657.1:n.-406T>A
ENST00000646777.1:n.295T>A
ENST00000647016.1:n.599T>A
ENST00000647152.1:c.-464T>A	ENSP00000495893.1:n.-464T>A
ENST00000647209.1:c.*135T>A	ENSP00000495558.1:n.*135T>A
ENST00000647346.1:n.1286T>A
ENST00000299427.10:c.266T>A	ENSP00000299427.6:p.Val89Glu
ENST00000428886.6:n.288T>A
ENST00000436873.6:c.266T>A	ENSP00000398136.2:p.Val89Glu
ENST00000528571.5:c.*6T>A	ENSP00000434647.1:n.*6T>A
ENST00000530040.1:n.378T>A
ENST00000533371.5:c.-464T>A	ENSP00000437066.1:n.-464T>A
ENST00000534644.5:n.251T>A
ENST00000611494.4:c.266T>A	ENSP00000484546.1:p.Val89Glu
NM_000391.3:c.266T>A	NP_000382.3:p.Val89Glu
NM_000391.4:c.266T>A MANE Select	NP_000382.3:p.Val89Glu

Linked Data

Genomic Alleles

Transcript Alleles