Revel Score:
ENST00000293217 (MANE Select)
0.484
ENST00000537812
0.484
ENST00000539791
0.484
ENST00000538781
0.484
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75960251T>A , CM000679.2:g.75960251T>A | GRCh38 |
| NC_000017.10:g.73956332T>A , CM000679.1:g.73956332T>A | GRCh37 |
| NC_000017.9:g.71467927T>A | NCBI36 |
| NG_008190.1:g.24113A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301608.9:c.431-2685A>T | ENSP00000301608.4:n.431-2685A>T | |
| ENST00000293217.10:c.394A>T MANE Select | ENSP00000293217.4:p.Ile132Phe | |
| ENST00000293217.9:c.394A>T | ENSP00000293217.4:p.Ile132Phe | |
| ENST00000301608.8:c.431-2685A>T | ENSP00000301608.4:n.431-2685A>T | |
| ENST00000572047.5:c.568A>T | ENSP00000459936.1:n.568A>T | |
| ENST00000573078.5:c.555A>T | ENSP00000458325.1:p.Arg185Ser | |
| ENST00000588176.5:c.431-4304A>T | ENSP00000466210.1:n.431-4304A>T | |
| ENST00000589301.1:c.*228-2685A>T | ENSP00000468435.1:n.*228-2685A>T | |
| ENST00000591857.5:n.412A>T | ||
| NM_001185039.1:c.280A>T | NP_001171968.1:p.Ile94Phe | |
| NM_004035.6:c.394A>T | NP_004026.2:p.Ile132Phe | |
| NM_007292.5:c.431-2685A>T | NP_009223.2:n.431-2685A>T | |
| XM_011524868.1:c.190A>T | XP_011523170.1:p.Ile64Phe | |
| XM_011524869.1:c.23-2685A>T | XP_011523171.1:n.23-2685A>T | |
| XM_011524868.3:c.190A>T | XP_011523170.1:p.Ile64Phe | |
| XM_011524869.3:c.23-2685A>T | XP_011523171.1:n.23-2685A>T | |
| NM_004035.7:c.394A>T MANE Select | NP_004026.2:p.Ile132Phe | |
| NM_001185039.2:c.280A>T | NP_001171968.1:p.Ile94Phe | |
| NM_007292.6:c.431-2685A>T | NP_009223.2:n.431-2685A>T |