gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00389526 (NFE)
Genomes Max Group AF
0.00346777 (NFE)
Exomes Max Group AF
0.00390077 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43208714G>A , CM000677.2:g.43208714G>A | GRCh38 |
| NC_000015.9:g.43500912G>A , CM000677.1:g.43500912G>A | GRCh37 |
| NC_000015.8:g.41288204G>A | NCBI36 |
| NG_011505.1:g.17412C>T | |
| NG_011505.2:g.22143C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441366.7:c.894C>T MANE Select | ENSP00000396616.2:p.Thr298= | |
| ENST00000567019.2:n.400C>T | ||
| ENST00000648595.1:c.984C>T | ENSP00000497777.1:p.Thr328= | |
| ENST00000300215.7:c.984C>T | ENSP00000300215.3:p.Thr328= | |
| ENST00000441366.6:c.894C>T | ENSP00000396616.2:p.Thr298= | |
| ENST00000540029.5:c.660C>T | ENSP00000444699.1:p.Thr220= | |
| ENST00000567019.1:n.409C>T | ||
| ENST00000568508.5:c.753C>T | ENSP00000457140.1:p.Thr251= | |
| ENST00000569204.1:c.453C>T | ENSP00000455489.1:p.Thr151= | |
| ENST00000622454.4:c.894C>T | ENSP00000481226.1:p.Thr298= | |
| NM_000119.2:c.984C>T | NP_000110.2:p.Thr328= | |
| NM_001114134.1:c.894C>T | NP_001107606.1:p.Thr298= | |
| XM_005254225.1:c.789C>T | XP_005254282.1:p.Thr263= | |
| XM_011521349.1:c.984C>T | XP_011519651.1:p.Thr328= | |
| XM_011521350.1:c.984C>T | XP_011519652.1:p.Thr328= | |
| XM_011521351.1:c.984C>T | XP_011519653.1:p.Thr328= | |
| XM_011521352.1:c.948C>T | XP_011519654.1:p.Thr316= | |
| XM_011521353.1:c.879C>T | XP_011519655.1:p.Thr293= | |
| XM_011521354.1:c.429C>T | XP_011519656.1:p.Thr143= | |
| NM_000119.3:c.984C>T | NP_000110.2:p.Thr328= | |
| XM_011521349.2:c.984C>T | XP_011519651.1:p.Thr328= | |
| XM_011521350.2:c.984C>T | XP_011519652.1:p.Thr328= | |
| XM_011521351.2:c.984C>T | XP_011519653.1:p.Thr328= | |
| XM_011521352.2:c.948C>T | XP_011519654.1:p.Thr316= | |
| XM_011521353.2:c.879C>T | XP_011519655.1:p.Thr293= | |
| XM_011521354.2:c.429C>T | XP_011519656.1:p.Thr143= | |
| NM_001114134.2:c.894C>T MANE Select | NP_001107606.1:p.Thr298= |