Canonical Allele Identifier: CA325578103
Gene:

Identifiers and link-outs to other resources

dbSNP Id: rs1001153999

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50720446C>T , CM000684.2:g.50720446C>T GRCh38
NC_000022.10:g.51158874C>T , CM000684.1:g.51158874C>T GRCh37
NC_000022.9:g.49505740C>T NCBI36
NG_008607.2:g.51092C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262795.5:n.2610C>T ENSP00000489147.1:p.Tyr870=
ENST00000414786.6:n.2798C>T
ENST00000445220.5:n.2592C>T ENSP00000489407.1:p.Tyr864=