gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5476129 (AFR)
Genomes Max Group AF
0.5476129 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48643203C>T , CM000679.2:g.48643203C>T | GRCh38 |
| NC_000017.10:g.46720565C>T , CM000679.1:g.46720565C>T | GRCh37 |
| NC_000017.9:g.44075564C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_934812.1:n.618+125C>T | ||
| XR_934813.1:n.618+125C>T | ||
| XR_934814.1:n.461+125C>T | ||
| XR_934817.1:n.460+125C>T | ||
| XR_934819.1:n.626+125C>T | ||
| XR_934820.1:n.468+3402G>A | ||
| XR_002958097.1:n.342+3402G>A |