Revel Score:
ENST00000292408 (MANE Select)
0.961
ENST00000393648
0.961
ENST00000502906
0.961
ENST00000292410
0.961
ENST00000393637
0.961
ENST00000377207
0.961
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177095551T>A , CM000667.2:g.177095551T>A | GRCh38 |
| NC_000005.9:g.176522552T>A , CM000667.1:g.176522552T>A | GRCh37 |
| NC_000005.8:g.176455158T>A | NCBI36 |
| NG_012067.1:g.13632T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292408.9:c.1649T>A MANE Select | ENSP00000292408.4:p.Val550Glu | |
| ENST00000292408.8:c.1649T>A | ENSP00000292408.4:p.Val550Glu | |
| ENST00000393637.5:c.1529T>A | ENSP00000377254.1:p.Val510Glu | |
| ENST00000393648.6:c.1445T>A | ENSP00000377259.2:p.Val482Glu | |
| ENST00000483872.2:n.635T>A | ||
| ENST00000502906.5:c.1649T>A | ENSP00000424960.1:p.Val550Glu | |
| ENST00000511076.1:c.543T>A | ||
| NM_001291980.1:c.1445T>A | NP_001278909.1:p.Val482Glu | |
| NM_002011.4:c.1649T>A | NP_002002.3:p.Val550Glu | |
| NM_022963.3:c.1529T>A | NP_075252.2:p.Val510Glu | |
| NM_213647.2:c.1649T>A | NP_998812.1:p.Val550Glu | |
| XM_005265838.2:c.1649T>A | XP_005265895.1:p.Val550Glu | |
| XM_011534464.1:c.1742T>A | XP_011532766.1:p.Val581Glu | |
| XM_011534465.1:c.1331T>A | XP_011532767.1:p.Val444Glu | |
| XR_941090.1:n.1644T>A | ||
| NM_001354984.1:c.1649T>A | NP_001341913.1:p.Val550Glu | |
| NM_213647.3:c.1649T>A MANE Select | NP_998812.1:p.Val550Glu | |
| NM_001291980.2:c.1445T>A | NP_001278909.1:p.Val482Glu | |
| NM_001354984.2:c.1649T>A | NP_001341913.1:p.Val550Glu | |
| NM_002011.5:c.1649T>A | NP_002002.3:p.Val550Glu |