gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2690333 (AFR)
Genomes Max Group AF
0.2690333 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78361310C>A , CM000679.2:g.78361310C>A | GRCh38 |
| NC_000017.10:g.76357391C>A , CM000679.1:g.76357391C>A | GRCh37 |
| NC_000017.9:g.73868986C>A | NCBI36 |
| NG_016851.1:g.3768G>T , LRG_619:g.3768G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110845.1:n.327-456C>A | ||
| NR_110846.1:n.59+250C>A | ||
| NR_110847.1:n.326+537C>A |