COSMIC:
COSM4770095 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32765163 (EAS)
Genomes Max Group AF
0.33611325 (EAS)
Exomes Max Group AF
0.32512141 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.98922244C>T , CM000677.2:g.98922244C>T | GRCh38 |
| NC_000015.9:g.99465473C>T , CM000677.1:g.99465473C>T | GRCh37 |
| NC_000015.8:g.97282996C>T | NCBI36 |
| NG_009492.1:g.277713C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649865.1:c.2298C>T | ENSP00000496919.1:p.Thr766= | |
| ENST00000650285.1:c.2298C>T MANE Select | ENSP00000497069.1:p.Thr766= | |
| ENST00000268035.10:c.2298C>T | ENSP00000268035.6:p.Thr766= | |
| ENST00000558762.5:c.2298C>T | ENSP00000453007.1:p.Thr766= | |
| ENST00000561049.1:n.489C>T | ||
| NM_000875.4:c.2298C>T | NP_000866.1:p.Thr766= | |
| NM_001291858.1:c.2298C>T | NP_001278787.1:p.Thr766= | |
| XM_011521513.1:c.2361C>T | XP_011519815.1:p.Thr787= | |
| XM_011521514.1:c.2361C>T | XP_011519816.1:p.Thr787= | |
| XM_011521515.1:c.2361C>T | XP_011519817.1:p.Thr787= | |
| XM_011521516.1:c.1389C>T | XP_011519818.1:p.Thr463= | |
| XM_011521517.1:c.963C>T | XP_011519819.1:p.Thr321= | |
| XM_011521516.2:c.1389C>T | XP_011519818.1:p.Thr463= | |
| XM_011521517.2:c.963C>T | XP_011519819.1:p.Thr321= | |
| XM_017022136.1:c.2373C>T | XP_016877625.1:p.Thr791= | |
| XM_017022137.1:c.2373C>T | XP_016877626.1:p.Thr791= | |
| XM_017022138.1:c.2373C>T | XP_016877627.1:p.Thr791= | |
| XM_017022139.1:c.1935C>T | XP_016877628.1:p.Thr645= | |
| XM_024449913.1:c.1389C>T | XP_024305681.1:p.Thr463= | |
| NM_000875.5:c.2298C>T MANE Select | NP_000866.1:p.Thr766= | |
| NM_001291858.2:c.2298C>T | NP_001278787.1:p.Thr766= |