gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.71454258 (AFR)
Genomes Max Group AF
0.71454258 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.95159374C>T , CM000676.2:g.95159374C>T | GRCh38 |
| NC_000014.8:g.95625711C>T , CM000676.1:g.95625711C>T | GRCh37 |
| NC_000014.7:g.94695464C>T | NCBI36 |
| NG_016311.1:g.3049G>A , LRG_492:g.3049G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_015415.1:n.373+339C>T |