Revel Score:
ENST00000330883
0.852
ENST00000392968
0.852
ENST00000262186 (MANE Select)
0.852
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948945G>A , CM000669.2:g.150948945G>A | GRCh38 |
| NC_000007.13:g.150646033G>A , CM000669.1:g.150646033G>A | GRCh37 |
| NC_000007.12:g.150276966G>A | NCBI36 |
| NG_008916.1:g.33982C>T , LRG_288:g.33982C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3336C>T | ||
| ENST00000262186.10:c.2503C>T MANE Select | ENSP00000262186.5:p.Arg835Trp | |
| ENST00000330883.9:c.1483C>T | ENSP00000328531.4:p.Arg495Trp | |
| ENST00000262186.9:c.2503C>T | ENSP00000262186.5:p.Arg835Trp | |
| ENST00000330883.8:c.1483C>T | ENSP00000328531.4:p.Arg495Trp | |
| NM_000238.3:c.2503C>T , LRG_288t1:c.2503C>T | NP_000229.1:p.Arg835Trp | |
| NM_172057.2:c.1483C>T , LRG_288t3:c.1483C>T | NP_742054.1:p.Arg495Trp | |
| XM_011516185.1:c.2203C>T | XP_011514487.1:p.Arg735Trp | |
| XM_011516186.1:c.2503C>T | XP_011514488.1:p.Arg835Trp | |
| XM_011516185.2:c.2203C>T | XP_011514487.1:p.Arg735Trp | |
| XM_011516186.3:c.2503C>T | XP_011514488.1:p.Arg835Trp | |
| XM_017012195.1:c.2353C>T | XP_016867684.1:p.Arg785Trp | |
| XM_017012196.1:c.2326C>T | XP_016867685.1:p.Arg776Trp | |
| NM_000238.4:c.2503C>T MANE Select | NP_000229.1:p.Arg835Trp | |
| NM_172057.3:c.1483C>T | NP_742054.1:p.Arg495Trp |