Revel Score:
ENST00000316623 (MANE Select)
0.992
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48422024A>T , CM000677.2:g.48422024A>T | GRCh38 |
| NC_000015.9:g.48714221A>T , CM000677.1:g.48714221A>T | GRCh37 |
| NC_000015.8:g.46501513A>T | NCBI36 |
| NG_008805.2:g.228765T>A , LRG_778:g.228765T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*306T>A | ENSP00000453958.2:n.*306T>A | |
| ENST00000674301.2:c.*1011T>A | ENSP00000501333.2:n.*1011T>A | |
| ENST00000682170.1:n.1679T>A | ||
| ENST00000682767.1:n.795T>A | ||
| ENST00000316623.10:c.7498T>A MANE Select | ENSP00000325527.5:p.Cys2500Ser | |
| ENST00000674301.1:c.2664T>A | ENSP00000501333.1:n.2664T>A | |
| ENST00000316623.9:c.7498T>A | ENSP00000325527.5:p.Cys2500Ser | |
| ENST00000559133.5:c.2867T>A | ||
| NM_000138.4:c.7498T>A , LRG_778t1:c.7498T>A | NP_000129.3:p.Cys2500Ser | |
| NM_000138.5:c.7498T>A MANE Select | NP_000129.3:p.Cys2500Ser |