Revel Score:
ENST00000374695 (MANE Select)
0.574
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21855402C>A , CM000663.2:g.21855402C>A | GRCh38 |
| NC_000001.10:g.22181895C>A , CM000663.1:g.22181895C>A | GRCh37 |
| NC_000001.9:g.22054482C>A | NCBI36 |
| NG_016740.1:g.86856G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.5899G>T MANE Select | ENSP00000363827.3:p.Val1967Phe | |
| ENST00000374695.7:c.5899G>T | ENSP00000363827.3:p.Val1967Phe | |
| NM_001291860.1:c.5902G>T | NP_001278789.1:p.Val1968Phe | |
| NM_005529.6:c.5899G>T | NP_005520.4:p.Val1967Phe | |
| XM_006710594.2:c.6445G>T | XP_006710657.1:p.Val2149Phe | |
| XM_006710595.2:c.6397G>T | XP_006710658.1:p.Val2133Phe | |
| XM_006710596.2:c.6376G>T | XP_006710659.1:p.Val2126Phe | |
| XM_006710597.2:c.5899G>T | XP_006710660.1:p.Val1967Phe | |
| XM_011541317.1:c.6448G>T | XP_011539619.1:p.Val2150Phe | |
| XM_011541318.1:c.6448G>T | XP_011539620.1:p.Val2150Phe | |
| XM_011541319.1:c.6448G>T | XP_011539621.1:p.Val2150Phe | |
| XM_011541320.1:c.6448G>T | XP_011539622.1:p.Val2150Phe | |
| XM_011541321.1:c.5953G>T | XP_011539623.1:p.Val1985Phe | |
| XM_011541322.1:c.6448G>T | XP_011539624.1:p.Val2150Phe | |
| XM_011541318.2:c.6448G>T | XP_011539620.1:p.Val2150Phe | |
| XM_017001120.1:c.6094G>T | XP_016856609.1:p.Val2032Phe | |
| XM_017001121.1:c.6043G>T | XP_016856610.1:p.Val2015Phe | |
| XM_017001122.1:c.6040G>T | XP_016856611.1:p.Val2014Phe | |
| NM_005529.7:c.5899G>T MANE Select | NP_005520.4:p.Val1967Phe | |
| NM_001291860.2:c.5902G>T | NP_001278789.1:p.Val1968Phe |