gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43046058 (AFR)
Genomes Max Group AF
0.43046058 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10103816T>C , CM000681.2:g.10103816T>C | GRCh38 |
| NC_000019.9:g.10214492T>C , CM000681.1:g.10214492T>C | GRCh37 |
| NC_000019.8:g.10075492T>C | NCBI36 |
| NG_051640.1:g.2594T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011528347.1:c.-99-1160A>G | XP_011526649.1:n.-99-1160A>G | |
| XM_011528349.1:c.-45-679A>G | XP_011526651.1:n.-45-679A>G | |
| XM_011528350.1:c.-99-1160A>G | XP_011526652.1:n.-99-1160A>G | |
| XM_011528347.3:c.-99-1160A>G | XP_011526649.1:n.-99-1160A>G | |
| XM_011528349.3:c.-45-679A>G | XP_011526651.1:n.-45-679A>G | |
| XM_011528350.3:c.-99-1160A>G | XP_011526652.1:n.-99-1160A>G | |
| XR_002958369.1:n.336-1160A>G | ||
| NM_001387347.1:c.-99-1160A>G | NP_001374276.1:n.-99-1160A>G | |
| NM_001387348.1:c.-99-1160A>G | NP_001374277.1:n.-99-1160A>G |