gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55413642 (AFR)
Genomes Max Group AF
0.55413642 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.60321657A>G , CM000682.2:g.60321657A>G | GRCh38 |
| NC_000020.10:g.58896715A>G , CM000682.1:g.58896715A>G | GRCh37 |
| NC_000020.9:g.58330110A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046099.1:n.1444A>G |