Canonical Allele Identifier: CA1797411915

Gene:

Linked Data

• dbSNP Id: rs1808001940
• gnomAD v4: 8-81478402-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.81478402G>A , CM000670.2:g.81478402G>A	GRCh38
NC_000008.10:g.82390637G>A , CM000670.1:g.82390637G>A	GRCh37
NC_000008.9:g.82553192G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745980.1:n.514+16428G>A