Revel Score:
ENST00000367021 (MANE Select)
0.583
ENST00000542854
0.583
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209790666C>T , CM000663.2:g.209790666C>T | GRCh38 |
| NC_000001.10:g.209964011C>T , CM000663.1:g.209964011C>T | GRCh37 |
| NC_000001.9:g.208030634C>T | NCBI36 |
| NG_007081.2:g.20469G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696133.1:c.889G>A | ENSP00000512426.1:p.Val297Ile | |
| ENST00000696134.1:c.*316G>A | ENSP00000512427.1:n.*316G>A | |
| ENST00000367021.8:c.889G>A MANE Select | ENSP00000355988.3:p.Val297Ile | |
| ENST00000643798.1:c.*399G>A | ENSP00000496669.1:n.*399G>A | |
| ENST00000367021.7:c.889G>A | ENSP00000355988.3:p.Val297Ile | |
| ENST00000542854.5:c.604G>A | ENSP00000440532.1:p.Val202Ile | |
| NM_001206696.1:c.604G>A | NP_001193625.1:p.Val202Ile | |
| NM_006147.3:c.889G>A | NP_006138.1:p.Val297Ile | |
| NM_006147.4:c.889G>A MANE Select | NP_006138.1:p.Val297Ile | |
| NM_001206696.2:c.604G>A | NP_001193625.1:p.Val202Ile |