Canonical Allele Identifier: CA13044175
Gene:

Linked Data

dbSNP Id: rs10959672
gnomAD v2: 9-11257448-G-A
gnomAD v3: 9-11257448-G-A
gnomAD v4: 9-11257448-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.11257448G>A , CM000671.2:g.11257448G>A GRCh38
NC_000009.11:g.11257448G>A , CM000671.1:g.11257448G>A GRCh37
NC_000009.10:g.11247448G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929478.1:n.476-2460C>T
XR_001746618.1:n.476-585C>T