Canonical Allele Identifier: CA1689218080

Gene:

Linked Data

• dbSNP Id: rs1429064739

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.13400564T>C , CM000669.2:g.13400564T>C	GRCh38
NC_000007.13:g.13440189T>C , CM000669.1:g.13440189T>C	GRCh37
NC_000007.12:g.13406714T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745097.1:n.147+90241T>C