Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617025A>T , CM000673.2:g.6617025A>T	GRCh38
NC_000011.9:g.6638256A>T , CM000673.1:g.6638256A>T	GRCh37
NC_000011.8:g.6594832A>T	NCBI36
NG_008653.1:g.7437T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.523T>A	ENSP00000507321.1:p.Ser175Thr
ENST00000299427.12:c.637T>A MANE Select	ENSP00000299427.6:p.Ser213Thr
ENST00000436873.7:c.312+276T>A
ENST00000524788.2:n.1796T>A
ENST00000524903.2:n.1912T>A
ENST00000528807.2:n.293T>A
ENST00000530040.2:n.479+334T>A
ENST00000533371.6:c.-93T>A	ENSP00000437066.1:n.-93T>A
ENST00000534644.6:n.585T>A
ENST00000642892.1:c.-93T>A	ENSP00000494165.1:n.-93T>A
ENST00000643439.1:c.*377T>A	ENSP00000495849.1:n.*377T>A
ENST00000643479.1:n.666T>A
ENST00000643516.1:c.395+276T>A
ENST00000644151.1:n.2076T>A
ENST00000644218.1:c.637T>A	ENSP00000493574.1:p.Ser213Thr
ENST00000644683.1:c.*90T>A	ENSP00000494085.1:n.*90T>A
ENST00000644810.1:c.358T>A	ENSP00000495895.1:p.Ser120Thr
ENST00000644831.1:n.813T>A
ENST00000644933.1:c.-93T>A	ENSP00000496133.1:n.-93T>A
ENST00000645020.1:n.1812T>A
ENST00000645285.1:c.-93T>A	ENSP00000495058.1:n.-93T>A
ENST00000645331.1:n.1003T>A
ENST00000645620.1:c.-93T>A	ENSP00000493657.1:n.-93T>A
ENST00000646777.1:n.813T>A
ENST00000647016.1:n.1117T>A
ENST00000647152.1:c.-93T>A	ENSP00000495893.1:n.-93T>A
ENST00000647209.1:c.*506T>A	ENSP00000495558.1:n.*506T>A
ENST00000647346.1:n.1657T>A
ENST00000299427.10:c.637T>A	ENSP00000299427.6:p.Ser213Thr
ENST00000428886.6:n.806T>A
ENST00000436873.6:c.450+334T>A	ENSP00000398136.2:n.450+334T>A
ENST00000524788.1:n.337T>A
ENST00000528571.5:c.*377T>A	ENSP00000434647.1:n.*377T>A
ENST00000528807.1:n.187T>A
ENST00000533371.5:c.-93T>A	ENSP00000437066.1:n.-93T>A
ENST00000534644.5:n.622T>A
ENST00000611494.4:c.637T>A	ENSP00000484546.1:p.Ser213Thr
NM_000391.3:c.637T>A	NP_000382.3:p.Ser213Thr
NM_000391.4:c.637T>A MANE Select	NP_000382.3:p.Ser213Thr

Linked Data

Genomic Alleles

Transcript Alleles