Canonical Allele Identifier: CA1120500347

Gene:

Linked Data

• dbSNP Id: rs996899168
• gnomAD v3: 9-1787372-T-A
• gnomAD v4: 9-1787372-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.1787372T>A , CM000671.2:g.1787372T>A	GRCh38
NC_000009.11:g.1787372T>A , CM000671.1:g.1787372T>A	GRCh37
NC_000009.10:g.1777372T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746599.1:n.142+68460T>A