Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617652G>T , CM000673.2:g.6617652G>T	GRCh38
NC_000011.9:g.6638883G>T , CM000673.1:g.6638883G>T	GRCh37
NC_000011.8:g.6595459G>T	NCBI36
NG_008653.1:g.6810C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.240C>A	ENSP00000507321.1:p.Asp80Glu
ENST00000299427.12:c.354C>A MANE Select	ENSP00000299427.6:p.Asp118Glu
ENST00000428886.7:n.442C>A
ENST00000436873.7:c.158C>A
ENST00000524788.2:n.1366C>A
ENST00000524903.2:n.1482C>A
ENST00000528571.6:c.*94C>A	ENSP00000434647.1:n.*94C>A
ENST00000530040.2:n.383C>A
ENST00000533371.6:c.-376C>A	ENSP00000437066.1:n.-376C>A
ENST00000534644.6:n.355C>A
ENST00000642892.1:c.-323C>A	ENSP00000494165.1:n.-323C>A
ENST00000643439.1:c.*94C>A	ENSP00000495849.1:n.*94C>A
ENST00000643479.1:n.383C>A
ENST00000643516.1:c.241C>A
ENST00000644151.1:n.1646C>A
ENST00000644218.1:c.354C>A	ENSP00000493574.1:p.Asp118Glu
ENST00000644683.1:c.354C>A	ENSP00000494085.1:p.Asp118Glu
ENST00000644810.1:c.230-499C>A	ENSP00000495895.1:n.230-499C>A
ENST00000644831.1:n.383C>A
ENST00000644933.1:c.-376C>A	ENSP00000496133.1:n.-376C>A
ENST00000645020.1:n.1382C>A
ENST00000645285.1:c.-376C>A	ENSP00000495058.1:n.-376C>A
ENST00000645331.1:n.376C>A
ENST00000645620.1:c.-318C>A	ENSP00000493657.1:n.-318C>A
ENST00000646777.1:n.383C>A
ENST00000647016.1:n.687C>A
ENST00000647152.1:c.-376C>A	ENSP00000495893.1:n.-376C>A
ENST00000647209.1:c.*223C>A	ENSP00000495558.1:n.*223C>A
ENST00000647346.1:n.1374C>A
ENST00000299427.10:c.354C>A	ENSP00000299427.6:p.Asp118Glu
ENST00000428886.6:n.376C>A
ENST00000436873.6:c.354C>A	ENSP00000398136.2:p.Asp118Glu
ENST00000528571.5:c.*94C>A	ENSP00000434647.1:n.*94C>A
ENST00000530040.1:n.466C>A
ENST00000533371.5:c.-376C>A	ENSP00000437066.1:n.-376C>A
ENST00000534644.5:n.339C>A
ENST00000611494.4:c.354C>A	ENSP00000484546.1:p.Asp118Glu
NM_000391.3:c.354C>A	NP_000382.3:p.Asp118Glu
NM_000391.4:c.354C>A MANE Select	NP_000382.3:p.Asp118Glu

Linked Data

Genomic Alleles

Transcript Alleles