Canonical Allele Identifier: CA216292229
Gene:

Linked Data

dbSNP Id: rs944863583
gnomAD v2: 11-2465767-G-A
gnomAD v3: 11-2444537-G-A
gnomAD v4: 11-2444537-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444537G>A , CM000673.2:g.2444537G>A GRCh38
NC_000011.9:g.2465767G>A , CM000673.1:g.2465767G>A GRCh37
NC_000011.8:g.2422343G>A NCBI36
NG_008935.1:g.4547G>A , LRG_287:g.4547G>A

Transcript Alleles

HGVS Amino-acid Change
XR_930984.1:n.34C>T