Canonical Allele Identifier:
CA14129408
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53776055 (EAS)
Genomes Max Group AF
0.53776055 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.33201020G>A , CM000677.2:g.33201020G>A | GRCh38 |
| NC_000015.9:g.33493221G>A , CM000677.1:g.33493221G>A | GRCh37 |
| NC_000015.8:g.31280513G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_932090.1:n.820+1638G>A | ||
| XR_932091.1:n.820+1638G>A | ||
| XR_932090.2:n.798+1638G>A |