Revel Score:
ENST00000205890
0.921
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18148784G>A , CM000679.2:g.18148784G>A | GRCh38 |
| NC_000017.10:g.18052098G>A , CM000679.1:g.18052098G>A | GRCh37 |
| NC_000017.9:g.17992823G>A | NCBI36 |
| NG_011634.1:g.45079G>A | |
| NG_011634.2:g.45079G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.6788G>A MANE Select | ENSP00000495481.1:p.Gly2263Asp | |
| ENST00000205890.9:c.6788G>A | ENSP00000205890.5:p.Gly2263Asp | |
| ENST00000578999.1:n.300G>A | ||
| ENST00000615845.4:c.6788G>A | ENSP00000481642.1:p.Gly2263Asp | |
| NM_016239.3:c.6788G>A | NP_057323.3:p.Gly2263Asp | |
| XM_011523917.1:c.6632-432G>A | XP_011522219.1:n.6632-432G>A | |
| XM_011523921.1:c.6782G>A | XP_011522223.1:p.Gly2261Asp | |
| XR_934037.1:n.7291-432G>A | ||
| XR_934038.1:n.7291-432G>A | ||
| XR_934293.1:n.435-1178C>T | ||
| XR_934295.1:n.254-1178C>T | ||
| XM_017024714.2:c.6728G>A | XP_016880203.1:p.Gly2243Asp | |
| XM_017024715.2:c.6791G>A | XP_016880204.1:p.Gly2264Asp | |
| XR_934293.2:n.378-1178C>T | ||
| NM_016239.4:c.6788G>A MANE Select | NP_057323.3:p.Gly2263Asp |