Canonical Allele Identifier:
CA12959476
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81069274 (SAS)
Genomes Max Group AF
0.81069274 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.79730966G>A , CM000671.2:g.79730966G>A | GRCh38 |
| NC_000009.11:g.82345881G>A , CM000671.1:g.82345881G>A | GRCh37 |
| NC_000009.10:g.81535701G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_929980.1:n.1019+654G>A |