Revel Score:
ENST00000401061 (MANE Select)
0.917
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45508840T>G , CM000663.2:g.45508840T>G | GRCh38 |
| NC_000001.10:g.45974512T>G , CM000663.1:g.45974512T>G | GRCh37 |
| NC_000001.9:g.45747099T>G | NCBI36 |
| NG_013378.1:g.13657T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.474T>G MANE Select | ENSP00000383840.4:p.Phe158Leu | |
| ENST00000401061.8:c.474T>G | ENSP00000383840.4:p.Phe158Leu | |
| ENST00000616135.1:c.303T>G | ENSP00000478859.1:p.Phe101Leu | |
| NM_015506.2:c.474T>G | NP_056321.2:p.Phe158Leu | |
| XM_005270724.3:c.279T>G | XP_005270781.1:p.Phe93Leu | |
| XM_011541204.1:c.303T>G | XP_011539506.1:p.Phe101Leu | |
| NM_001330540.1:c.303T>G | NP_001317469.1:p.Phe101Leu | |
| XM_005270724.5:c.279T>G | XP_005270781.1:p.Phe93Leu | |
| NM_015506.3:c.474T>G MANE Select | NP_056321.2:p.Phe158Leu | |
| NM_001330540.2:c.303T>G | NP_001317469.1:p.Phe101Leu |