Canonical Allele Identifier: CA953408038

Gene:

Linked Data

• dbSNP Id: rs1050613631
• gnomAD v3: 12-131529588-G-A
• gnomAD v4: 12-131529588-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131529588G>A , CM000674.2:g.131529588G>A	GRCh38
NC_000012.11:g.132014133G>A , CM000674.1:g.132014133G>A	GRCh37
NC_000012.10:g.130580086G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_945564.1:n.1076+187C>T
XR_001749407.2:n.1067+187C>T