Canonical Allele Identifier:
CA13902279
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73256605 (AFR)
Genomes Max Group AF
0.73256605 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23722723A>G , CM000675.2:g.23722723A>G | GRCh38 |
| NC_000013.10:g.24296862A>G , CM000675.1:g.24296862A>G | GRCh37 |
| NC_000013.9:g.23194862A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_941745.1:n.370+6106A>G | ||
| XR_941746.1:n.755A>G | ||
| XR_941747.1:n.372-1306A>G | ||
| XR_941745.2:n.393+6106A>G | ||
| XR_941746.2:n.777A>G | ||
| XR_941747.2:n.394-1306A>G |