Canonical Allele Identifier: CA337714062
Gene:

Identifiers and link-outs to other resources

dbSNP Id: rs112707890

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12384958G>A , CM000686.2:g.12384958G>A GRCh38
NC_000024.9:g.14496753G>A , CM000686.1:g.14496753G>A GRCh37
NC_000024.8:g.13006761G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001756061.1:n.609-6209C>T
ENST00000382966.5:n.283+21838C>T
ENST00000443820.1:n.856+528G>A
ENST00000493160.5:n.803-1628C>T