Canonical Allele Identifier: CA953408048

Gene:

Linked Data

• dbSNP Id: rs1953652186
• gnomAD v3: 12-131529601-G-T
• gnomAD v4: 12-131529601-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131529601G>T , CM000674.2:g.131529601G>T	GRCh38
NC_000012.11:g.132014146G>T , CM000674.1:g.132014146G>T	GRCh37
NC_000012.10:g.130580099G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_945564.1:n.1076+174C>A
XR_001749407.2:n.1067+174C>A