gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59534345 (SAS)
Genomes Max Group AF
0.59165588 (SAS)
Exomes Max Group AF
0.58141069 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.98960571G>T , CM000677.2:g.98960571G>T | GRCh38 |
| NC_000015.9:g.99503800G>T , CM000677.1:g.99503800G>T | GRCh37 |
| NC_000015.8:g.97321323G>T | NCBI36 |
| NG_009492.1:g.316040G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649865.1:c.*3129G>T | ENSP00000496919.1:n.*3129G>T | |
| ENST00000650285.1:c.*3129G>T MANE Select | ENSP00000497069.1:n.*3129G>T | |
| ENST00000268035.10:c.*3129G>T | ENSP00000268035.6:n.*3129G>T | |
| ENST00000558762.5:c.*3129G>T | ENSP00000453007.1:n.*3129G>T | |
| NM_000875.4:c.*3129G>T | NP_000866.1:n.*3129G>T | |
| NM_001291858.1:c.*3129G>T | NP_001278787.1:n.*3129G>T | |
| XM_011521513.1:c.*3129G>T | XP_011519815.1:n.*3129G>T | |
| XM_011521514.1:c.*2643G>T | XP_011519816.1:n.*2643G>T | |
| XM_011521515.1:c.*3129G>T | XP_011519817.1:n.*3129G>T | |
| XM_011521516.1:c.*3129G>T | XP_011519818.1:n.*3129G>T | |
| XM_011521517.1:c.*3129G>T | XP_011519819.1:n.*3129G>T | |
| XM_017022136.1:c.*3129G>T | XP_016877625.1:n.*3129G>T | |
| XM_017022137.1:c.*2643G>T | XP_016877626.1:n.*2643G>T | |
| XM_017022138.1:c.*3129G>T | XP_016877627.1:n.*3129G>T | |
| NM_000875.5:c.*3129G>T MANE Select | NP_000866.1:n.*3129G>T | |
| NM_001291858.2:c.*3129G>T | NP_001278787.1:n.*3129G>T |