COSMIC:
COSM3999692 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45463149 (NFE)
Genomes Max Group AF
0.4478376 (NFE)
Exomes Max Group AF
0.45481916 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.98934996G>A , CM000677.2:g.98934996G>A | GRCh38 |
| NC_000015.9:g.99478225G>A , CM000677.1:g.99478225G>A | GRCh37 |
| NC_000015.8:g.97295748G>A | NCBI36 |
| NG_009492.1:g.290465G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649865.1:c.3126G>A | ENSP00000496919.1:p.Glu1042= | |
| ENST00000650285.1:c.3129G>A MANE Select | ENSP00000497069.1:p.Glu1043= | |
| ENST00000268035.10:c.3129G>A | ENSP00000268035.6:p.Glu1043= | |
| ENST00000558762.5:c.3126G>A | ENSP00000453007.1:p.Glu1042= | |
| ENST00000560972.1:c.260-320G>A | ENSP00000453180.1:n.260-320G>A | |
| NM_000875.4:c.3129G>A | NP_000866.1:p.Glu1043= | |
| NM_001291858.1:c.3126G>A | NP_001278787.1:p.Glu1042= | |
| XM_011521513.1:c.3192G>A | XP_011519815.1:p.Glu1064= | |
| XM_011521514.1:c.3192G>A | XP_011519816.1:p.Glu1064= | |
| XM_011521515.1:c.3189G>A | XP_011519817.1:p.Glu1063= | |
| XM_011521516.1:c.2220G>A | XP_011519818.1:p.Glu740= | |
| XM_011521517.1:c.1794G>A | XP_011519819.1:p.Glu598= | |
| XM_011521516.2:c.2220G>A | XP_011519818.1:p.Glu740= | |
| XM_011521517.2:c.1794G>A | XP_011519819.1:p.Glu598= | |
| XM_017022136.1:c.3204G>A | XP_016877625.1:p.Glu1068= | |
| XM_017022137.1:c.3204G>A | XP_016877626.1:p.Glu1068= | |
| XM_017022138.1:c.3201G>A | XP_016877627.1:p.Glu1067= | |
| XM_017022139.1:c.2766G>A | XP_016877628.1:p.Glu922= | |
| XM_024449913.1:c.2220G>A | XP_024305681.1:p.Glu740= | |
| NM_000875.5:c.3129G>A MANE Select | NP_000866.1:p.Glu1043= | |
| NM_001291858.2:c.3126G>A | NP_001278787.1:p.Glu1042= |