gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43506177 (AFR)
Genomes Max Group AF
0.43506177 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57316323G>T , CM000680.2:g.57316323G>T | GRCh38 |
| NC_000018.9:g.54983554G>T , CM000680.1:g.54983554G>T | GRCh37 |
| NC_000018.8:g.53134552G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_935518.1:n.203+17807C>A |