Revel Score:
ENST00000256646 (MANE Select)
0.565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119917733C>A , CM000663.2:g.119917733C>A | GRCh38 |
| NC_000001.10:g.120460356C>A , CM000663.1:g.120460356C>A | GRCh37 |
| NC_000001.9:g.120261879C>A | NCBI36 |
| NG_008163.1:g.156921G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.5959G>T MANE Select | ENSP00000256646.2:p.Val1987Phe | |
| ENST00000256646.6:c.5959G>T | ENSP00000256646.2:p.Val1987Phe | |
| NM_024408.3:c.5959G>T | NP_077719.2:p.Val1987Phe | |
| XM_005270901.2:c.5842G>T | XP_005270958.1:p.Val1948Phe | |
| XM_011541519.1:c.5947G>T | XP_011539821.1:p.Val1983Phe | |
| XM_011541520.1:c.5842G>T | XP_011539822.1:p.Val1948Phe | |
| NM_024408.4:c.5959G>T MANE Select | NP_077719.2:p.Val1987Phe |