Canonical Allele Identifier: CA13681404
Gene:

Linked Data

dbSNP Id: rs11616188
gnomAD v2: 12-6502742-G-A
gnomAD v3: 12-6393576-G-A
gnomAD v4: 12-6393576-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6393576G>A , CM000674.2:g.6393576G>A GRCh38
NC_000012.11:g.6502742G>A , CM000674.1:g.6502742G>A GRCh37
NC_000012.10:g.6373003G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_931594.1:n.211G>A