Revel Score:
ENST00000316623 (MANE Select)
0.995
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48415690A>T , CM000677.2:g.48415690A>T | GRCh38 |
| NC_000015.9:g.48707887A>T , CM000677.1:g.48707887A>T | GRCh37 |
| NC_000015.8:g.46495179A>T | NCBI36 |
| NG_008805.2:g.235099T>A , LRG_778:g.235099T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*705T>A | ENSP00000453958.2:n.*705T>A | |
| ENST00000674301.2:c.*1410T>A | ENSP00000501333.2:n.*1410T>A | |
| ENST00000682158.1:n.1278T>A | ||
| ENST00000682170.1:n.2078T>A | ||
| ENST00000682767.1:n.1194T>A | ||
| ENST00000316623.10:c.7897T>A MANE Select | ENSP00000325527.5:p.Cys2633Ser | |
| ENST00000674301.1:c.3063T>A | ENSP00000501333.1:n.3063T>A | |
| ENST00000316623.9:c.7897T>A | ENSP00000325527.5:p.Cys2633Ser | |
| ENST00000559133.5:c.3266T>A | ||
| ENST00000561429.1:n.152T>A | ||
| NM_000138.4:c.7897T>A , LRG_778t1:c.7897T>A | NP_000129.3:p.Cys2633Ser | |
| NM_000138.5:c.7897T>A MANE Select | NP_000129.3:p.Cys2633Ser |