Revel Score:
ENST00000455537 (MANE Select)
0.807
ENST00000286452
0.807
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57567510C>A , CM000674.2:g.57567510C>A | GRCh38 |
| NC_000012.11:g.57961293C>A , CM000674.1:g.57961293C>A | GRCh37 |
| NC_000012.10:g.56247560C>A | NCBI36 |
| NG_008155.1:g.22447C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.606C>A MANE Select | ENSP00000408979.2:p.Ser202Arg | |
| ENST00000674619.1:c.606C>A | ENSP00000502270.1:p.Ser202Arg | |
| ENST00000676457.1:c.501C>A | ENSP00000501588.1:p.Ser167Arg | |
| ENST00000286452.5:c.339C>A | ENSP00000286452.5:p.Ser113Arg | |
| ENST00000455537.6:c.606C>A | ENSP00000408979.2:p.Ser202Arg | |
| NM_004984.2:c.606C>A | NP_004975.2:p.Ser202Arg | |
| NM_001354705.1:c.339C>A | NP_001341634.1:p.Ser113Arg | |
| NM_004984.3:c.606C>A | NP_004975.2:p.Ser202Arg | |
| XR_002957324.1:n.839C>A | ||
| NM_004984.4:c.606C>A MANE Select | NP_004975.2:p.Ser202Arg | |
| NM_001354705.2:c.339C>A | NP_001341634.1:p.Ser113Arg |