Canonical Allele Identifier: CA1250829451

Gene:

Linked Data

• dbSNP Id: rs989457794
• gnomAD v4: 2-52722545-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.52722545G>A , CM000664.2:g.52722545G>A	GRCh38
NC_000002.11:g.52949683G>A , CM000664.1:g.52949683G>A	GRCh37
NC_000002.10:g.52803187G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_002959384.1:n.712C>T