Canonical Allele Identifier: CA1129422953

Gene:

Linked Data

• dbSNP Id: rs147431077
• gnomAD v3: 9-129576707-G-T
• gnomAD v4: 9-129576707-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129576707G>T , CM000671.2:g.129576707G>T	GRCh38
NC_000009.11:g.132338986G>T , CM000671.1:g.132338986G>T	GRCh37
NC_000009.10:g.131378807G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_930390.1:n.182+1109G>T