gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5095681 (AFR)
Genomes Max Group AF
0.5095681 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36437079A>G , CM000683.2:g.36437079A>G | GRCh38 |
| NC_000021.8:g.37809377A>G , CM000683.1:g.37809377A>G | GRCh37 |
| NC_000021.7:g.36731247A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_937694.1:n.88+6667A>G | ||
| XR_937695.1:n.88+6667A>G | ||
| XR_937696.1:n.88+6667A>G | ||
| XR_937697.1:n.198+6091A>G | ||
| XR_937698.1:n.119+6667A>G | ||
| XR_001755025.1:n.88+6667A>G | ||
| XR_001755026.2:n.88+6667A>G |