Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617708G>T , CM000673.2:g.6617708G>T	GRCh38
NC_000011.9:g.6638939G>T , CM000673.1:g.6638939G>T	GRCh37
NC_000011.8:g.6595515G>T	NCBI36
NG_008653.1:g.6754C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.184C>A	ENSP00000507321.1:p.Gln62Lys
ENST00000299427.12:c.298C>A MANE Select	ENSP00000299427.6:p.Gln100Lys
ENST00000428886.7:n.386C>A
ENST00000436873.7:c.102C>A
ENST00000524788.2:n.1310C>A
ENST00000524903.2:n.1426C>A
ENST00000528571.6:c.*38C>A	ENSP00000434647.1:n.*38C>A
ENST00000530040.2:n.327C>A
ENST00000533371.6:c.-432C>A	ENSP00000437066.1:n.-432C>A
ENST00000534644.6:n.299C>A
ENST00000642892.1:c.-379C>A	ENSP00000494165.1:n.-379C>A
ENST00000643439.1:c.*38C>A	ENSP00000495849.1:n.*38C>A
ENST00000643479.1:n.327C>A
ENST00000643516.1:c.185C>A
ENST00000644151.1:n.1590C>A
ENST00000644218.1:c.298C>A	ENSP00000493574.1:p.Gln100Lys
ENST00000644683.1:c.298C>A	ENSP00000494085.1:p.Gln100Lys
ENST00000644810.1:c.230-555C>A	ENSP00000495895.1:n.230-555C>A
ENST00000644831.1:n.327C>A
ENST00000644933.1:c.-432C>A	ENSP00000496133.1:n.-432C>A
ENST00000645020.1:n.1326C>A
ENST00000645285.1:c.-432C>A	ENSP00000495058.1:n.-432C>A
ENST00000645331.1:n.320C>A
ENST00000645620.1:c.-374C>A	ENSP00000493657.1:n.-374C>A
ENST00000646777.1:n.327C>A
ENST00000647016.1:n.631C>A
ENST00000647152.1:c.-432C>A	ENSP00000495893.1:n.-432C>A
ENST00000647209.1:c.*167C>A	ENSP00000495558.1:n.*167C>A
ENST00000647346.1:n.1318C>A
ENST00000299427.10:c.298C>A	ENSP00000299427.6:p.Gln100Lys
ENST00000428886.6:n.320C>A
ENST00000436873.6:c.298C>A	ENSP00000398136.2:p.Gln100Lys
ENST00000528571.5:c.*38C>A	ENSP00000434647.1:n.*38C>A
ENST00000530040.1:n.410C>A
ENST00000533371.5:c.-432C>A	ENSP00000437066.1:n.-432C>A
ENST00000534644.5:n.283C>A
ENST00000611494.4:c.298C>A	ENSP00000484546.1:p.Gln100Lys
NM_000391.3:c.298C>A	NP_000382.3:p.Gln100Lys
NM_000391.4:c.298C>A MANE Select	NP_000382.3:p.Gln100Lys

Linked Data

Genomic Alleles

Transcript Alleles