Canonical Allele Identifier: CA761272657
Gene:

Linked Data

dbSNP Id: rs1347224793
gnomAD v3: 2-17844021-G-A
gnomAD v4: 2-17844021-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.17844021G>A , CM000664.2:g.17844021G>A GRCh38
NC_000002.11:g.18025288G>A , CM000664.1:g.18025288G>A GRCh37
NC_000002.10:g.17888769G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939764.2:n.447+3673C>T