Canonical Allele Identifier:
CA315556726
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40455118 (EAS)
Genomes Max Group AF
0.40455118 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45495883A>G , CM000682.2:g.45495883A>G | GRCh38 |
| NC_000020.10:g.44124523A>G , CM000682.1:g.44124523A>G | GRCh37 |
| NC_000020.9:g.43557937A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001754641.2:n.67+8173A>G |