Revel Score:
ENST00000536044
0.927
ENST00000540413
0.927
ENST00000263431 (MANE Select)
0.927
ENST00000419486
0.927
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53882648T>A , CM000681.2:g.53882648T>A | GRCh38 |
| NC_000019.9:g.54385902T>A , CM000681.1:g.54385902T>A | GRCh37 |
| NC_000019.8:g.59077714T>A | NCBI36 |
| NG_009114.1:g.5436T>A , LRG_669:g.5436T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.154T>A | ENSP00000507230.1:p.Cys52Ser | |
| ENST00000682268.1:n.452T>A | ||
| ENST00000682902.1:n.456T>A | ||
| ENST00000683513.1:c.154T>A | ENSP00000506809.1:p.Cys52Ser | |
| ENST00000263431.4:c.154T>A MANE Select | ENSP00000263431.3:p.Cys52Ser | |
| ENST00000263431.3:c.154T>A | ENSP00000263431.3:p.Cys52Ser | |
| ENST00000419486.1:c.-231T>A | ENSP00000387919.2:n.-231T>A | |
| ENST00000474397.5:c.-231T>A | ENSP00000471271.1:n.-231T>A | |
| ENST00000479081.5:c.-231T>A | ENSP00000471544.1:n.-231T>A | |
| NM_001316329.1:c.154T>A | NP_001303258.1:p.Cys52Ser | |
| NM_002739.3:c.154T>A , LRG_669t1:c.154T>A | NP_002730.1:p.Cys52Ser | |
| NM_002739.4:c.154T>A | NP_002730.1:p.Cys52Ser | |
| NM_002739.5:c.154T>A MANE Select | NP_002730.1:p.Cys52Ser | |
| NM_001316329.2:c.154T>A | NP_001303258.1:p.Cys52Ser |