Revel Score:
ENST00000225927 (MANE Select)
0.888
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42541125T>G , CM000679.2:g.42541125T>G | GRCh38 |
| NC_000017.10:g.40693143T>G , CM000679.1:g.40693143T>G | GRCh37 |
| NC_000017.9:g.37946669T>G | NCBI36 |
| NG_011552.1:g.10193T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.940T>G MANE Select | ENSP00000225927.1:p.Phe314Val | |
| ENST00000225927.6:c.940T>G | ENSP00000225927.1:p.Phe314Val | |
| ENST00000591587.1:c.360-1903T>G | ENSP00000467836.1:n.360-1903T>G | |
| ENST00000592454.1:c.35T>G | ||
| NM_000263.3:c.940T>G | NP_000254.2:p.Phe314Val | |
| XM_006721920.2:c.109T>G | XP_006721983.1:p.Phe37Val | |
| XM_011524840.1:c.23-1903T>G | XP_011523142.1:n.23-1903T>G | |
| XM_017024687.1:c.109T>G | XP_016880176.1:p.Phe37Val | |
| XM_024450771.1:c.997T>G | XP_024306539.1:p.Phe333Val | |
| XM_024450772.1:c.23-1903T>G | XP_024306540.1:n.23-1903T>G | |
| NM_000263.4:c.940T>G MANE Select | NP_000254.2:p.Phe314Val |