gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57807569 (NFE)
Genomes Max Group AF
0.57807569 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.24447626C>G , CM000684.2:g.24447626C>G | GRCh38 |
| NC_000022.10:g.24843594C>G , CM000684.1:g.24843594C>G | GRCh37 |
| NC_000022.9:g.23173594C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_028483.2:n.1121+4585G>C | ||
| NR_028484.2:n.685-5486G>C | ||
| NR_028484.3:n.685-5486G>C |