Revel Score:
ENST00000228872 (MANE Select)
0.180
ENST00000535674
0.180
ENST00000396340
0.180
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718215G>A , CM000674.2:g.12718215G>A | GRCh38 |
| NC_000012.11:g.12871149G>A , CM000674.1:g.12871149G>A | GRCh37 |
| NC_000012.10:g.12762416G>A | NCBI36 |
| NG_016341.1:g.5848G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.376G>A | ENSP00000507272.1:p.Glu126Lys | |
| ENST00000682620.1:n.1631-610G>A | ||
| ENST00000684771.1:n.585-610G>A | ||
| ENST00000228872.9:c.376G>A MANE Select | ENSP00000228872.4:p.Glu126Lys | |
| ENST00000228872.8:c.376G>A | ENSP00000228872.4:p.Glu126Lys | |
| ENST00000396340.1:c.376G>A | ENSP00000379629.1:p.Glu126Lys | |
| ENST00000442489.1:c.193+162G>A | ENSP00000407597.1:n.193+162G>A | |
| ENST00000477087.1:n.155-610G>A | ||
| NM_004064.4:c.376G>A | NP_004055.1:p.Glu126Lys | |
| NM_004064.5:c.376G>A MANE Select | NP_004055.1:p.Glu126Lys |