Revel Score:
ENST00000380659 (MANE Select)
0.375
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.12887891G>T , CM000685.2:g.12887891G>T | GRCh38 |
| NC_000023.10:g.12906010G>T , CM000685.1:g.12906010G>T | GRCh37 |
| NC_000023.9:g.12815931G>T | NCBI36 |
| NG_012569.1:g.25809G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380659.4:c.2383G>T MANE Select | ENSP00000370034.3:p.Val795Phe | |
| ENST00000380659.3:c.2383G>T | ENSP00000370034.3:p.Val795Phe | |
| NM_016562.3:c.2383G>T | NP_057646.1:p.Val795Phe | |
| NM_016562.4:c.2383G>T MANE Select | NP_057646.1:p.Val795Phe |