gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19364329 (AFR)
Genomes Max Group AF
0.19364329 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.67803512A>G , CM000680.2:g.67803512A>G | GRCh38 |
| NC_000018.9:g.65470749A>G , CM000680.1:g.65470749A>G | GRCh37 |
| NC_000018.8:g.63621729A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033921.1:n.205-30907A>G |