Canonical Allele Identifier: CA1122483517
Gene:

Linked Data

dbSNP Id: rs1819674824
gnomAD v3: 9-25551277-T-G
gnomAD v4: 9-25551277-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551277T>G , CM000671.2:g.25551277T>G GRCh38
NC_000009.11:g.25551275T>G , CM000671.1:g.25551275T>G GRCh37
NC_000009.10:g.25541275T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_929525.1:n.50-705A>C
XR_929525.2:n.674-705A>C