Canonical Allele Identifier:
CA24757437
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11594334 (EAS)
Genomes Max Group AF
0.11594334 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.70830319G>A , CM000663.2:g.70830319G>A | GRCh38 |
| NC_000001.10:g.71296002G>A , CM000663.1:g.71296002G>A | GRCh37 |
| NC_000001.9:g.71068590G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_426711.2:n.164-8480G>A | ||
| XR_426712.2:n.32G>A | ||
| XR_947502.1:n.32-8480G>A | ||
| XR_001737665.1:n.32G>A | ||
| XR_426711.3:n.238-8480G>A |