Canonical Allele Identifier: CA1012052212

Gene:

Linked Data

• dbSNP Id: rs1658288071
• gnomAD v3: 1-213682319-C-T
• gnomAD v4: 1-213682319-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.213682319C>T , CM000663.2:g.213682319C>T	GRCh38
NC_000001.10:g.213855662C>T , CM000663.1:g.213855662C>T	GRCh37
NC_000001.9:g.211922285C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001738463.1:n.601-49098C>T
XR_001738464.1:n.426-49098C>T