Revel Score:
ENST00000347132 (MANE Select)
0.959
ENST00000509682
0.959
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40819423A>T , CM000663.2:g.40819423A>T | GRCh38 |
| NC_000001.10:g.41285095A>T , CM000663.1:g.41285095A>T | GRCh37 |
| NC_000001.9:g.41057682A>T | NCBI36 |
| NG_008139.1:g.40412A>T | |
| NG_008139.2:g.40412A>T | |
| NG_008139.3:g.40637A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.785A>T MANE Select | ENSP00000262916.6:p.Asp262Val | |
| ENST00000347132.9:c.785A>T | ENSP00000262916.6:p.Asp262Val | |
| ENST00000443478.3:c.471A>T | ||
| ENST00000506017.1:n.104A>T | ||
| ENST00000509682.6:c.785A>T | ENSP00000423756.2:p.Asp262Val | |
| NM_004700.3:c.785A>T | NP_004691.2:p.Asp262Val | |
| NM_172163.2:c.785A>T | NP_751895.1:p.Asp262Val | |
| XM_011542417.1:c.785A>T | XP_011540719.1:p.Asp262Val | |
| XM_011542418.1:c.785A>T | XP_011540720.1:p.Asp262Val | |
| XM_011542419.1:c.785A>T | XP_011540721.1:p.Asp262Val | |
| XM_011542420.1:c.785A>T | XP_011540722.1:p.Asp262Val | |
| XR_946798.1:n.791A>T | ||
| XR_946799.1:n.791A>T | ||
| XR_946800.1:n.791A>T | ||
| XM_017002792.1:c.-233A>T | XP_016858281.1:n.-233A>T | |
| NM_004700.4:c.785A>T MANE Select | NP_004691.2:p.Asp262Val | |
| NM_172163.3:c.785A>T | NP_751895.1:p.Asp262Val |