Revel Score:
ENST00000380252
0.425
ENST00000380259
0.425
ENST00000336906 (MANE Select)
0.425
ENST00000380247
0.425
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254472G>T , CM000673.2:g.5254472G>T | GRCh38 |
| NC_000011.9:g.5275702G>T , CM000673.1:g.5275702G>T | GRCh37 |
| NC_000011.8:g.5232278G>T | NCBI36 |
| NG_000007.3:g.43144C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.135C>A MANE Select | ENSP00000338082.4:p.Ser45Arg | |
| ENST00000380252.6:c.-31C>A | ENSP00000369602.2:n.-31C>A | |
| ENST00000380259.7:c.1681C>A | ENSP00000369609.3:n.1681C>A | |
| ENST00000642908.1:c.135C>A | ENSP00000495346.1:p.Ser45Arg | |
| ENST00000647543.1:c.135C>A | ENSP00000496470.1:p.Ser45Arg | |
| ENST00000336906.4:c.135C>A | ENSP00000338082.4:p.Ser45Arg | |
| ENST00000380252.5:c.105C>A | ENSP00000369602.1:p.Ser35Arg | |
| ENST00000380259.6:c.135C>A | ENSP00000369609.2:p.Ser45Arg | |
| ENST00000444587.1:c.*4C>A | ENSP00000488218.1:n.*4C>A | |
| ENST00000620888.4:c.135C>A | ENSP00000479637.1:p.Ser45Arg | |
| ENST00000624109.1:c.220G>T | ENSP00000485458.1:p.Ala74Ser | |
| NM_000184.2:c.135C>A | NP_000175.1:p.Ser45Arg | |
| NM_000184.3:c.135C>A MANE Select | NP_000175.1:p.Ser45Arg |