Revel Score:
ENST00000268035
0.553
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.98934996G>T , CM000677.2:g.98934996G>T | GRCh38 |
| NC_000015.9:g.99478225G>T , CM000677.1:g.99478225G>T | GRCh37 |
| NC_000015.8:g.97295748G>T | NCBI36 |
| NG_009492.1:g.290465G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649865.1:c.3126G>T | ENSP00000496919.1:p.Glu1042Asp | |
| ENST00000650285.1:c.3129G>T MANE Select | ENSP00000497069.1:p.Glu1043Asp | |
| ENST00000268035.10:c.3129G>T | ENSP00000268035.6:p.Glu1043Asp | |
| ENST00000558762.5:c.3126G>T | ENSP00000453007.1:p.Glu1042Asp | |
| ENST00000560972.1:c.260-320G>T | ENSP00000453180.1:n.260-320G>T | |
| NM_000875.4:c.3129G>T | NP_000866.1:p.Glu1043Asp | |
| NM_001291858.1:c.3126G>T | NP_001278787.1:p.Glu1042Asp | |
| XM_011521513.1:c.3192G>T | XP_011519815.1:p.Glu1064Asp | |
| XM_011521514.1:c.3192G>T | XP_011519816.1:p.Glu1064Asp | |
| XM_011521515.1:c.3189G>T | XP_011519817.1:p.Glu1063Asp | |
| XM_011521516.1:c.2220G>T | XP_011519818.1:p.Glu740Asp | |
| XM_011521517.1:c.1794G>T | XP_011519819.1:p.Glu598Asp | |
| XM_011521516.2:c.2220G>T | XP_011519818.1:p.Glu740Asp | |
| XM_011521517.2:c.1794G>T | XP_011519819.1:p.Glu598Asp | |
| XM_017022136.1:c.3204G>T | XP_016877625.1:p.Glu1068Asp | |
| XM_017022137.1:c.3204G>T | XP_016877626.1:p.Glu1068Asp | |
| XM_017022138.1:c.3201G>T | XP_016877627.1:p.Glu1067Asp | |
| XM_017022139.1:c.2766G>T | XP_016877628.1:p.Glu922Asp | |
| XM_024449913.1:c.2220G>T | XP_024305681.1:p.Glu740Asp | |
| NM_000875.5:c.3129G>T MANE Select | NP_000866.1:p.Glu1043Asp | |
| NM_001291858.2:c.3126G>T | NP_001278787.1:p.Glu1042Asp |