Canonical Allele Identifier:
CA225433547
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72607288 (NFE)
Genomes Max Group AF
0.72607288 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.87414396A>G , CM000673.2:g.87414396A>G | GRCh38 |
| NC_000011.9:g.87125438A>G , CM000673.1:g.87125438A>G | GRCh37 |
| NC_000011.8:g.86803086A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001748316.1:n.1268+51920A>G | ||
| XR_002957260.1:n.1345+41528A>G | ||
| XR_002957261.1:n.1268+51920A>G |