Revel Score:
ENST00000374695 (MANE Select)
0.095
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00553187 (EAS)
Genomes Max Group AF
0.00499206 (EAS)
Exomes Max Group AF
0.00541789 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21850049G>A , CM000663.2:g.21850049G>A | GRCh38 |
| NC_000001.10:g.22176542G>A , CM000663.1:g.22176542G>A | GRCh37 |
| NC_000001.9:g.22049129G>A | NCBI36 |
| NG_016740.1:g.92209C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.7438C>T MANE Select | ENSP00000363827.3:p.Arg2480Trp | |
| ENST00000374695.7:c.7438C>T | ENSP00000363827.3:p.Arg2480Trp | |
| NM_001291860.1:c.7441C>T | NP_001278789.1:p.Arg2481Trp | |
| NM_005529.6:c.7438C>T | NP_005520.4:p.Arg2480Trp | |
| XM_006710594.2:c.7984C>T | XP_006710657.1:p.Arg2662Trp | |
| XM_006710595.2:c.7936C>T | XP_006710658.1:p.Arg2646Trp | |
| XM_006710596.2:c.7915C>T | XP_006710659.1:p.Arg2639Trp | |
| XM_006710597.2:c.7438C>T | XP_006710660.1:p.Arg2480Trp | |
| XM_011541317.1:c.7987C>T | XP_011539619.1:p.Arg2663Trp | |
| XM_011541318.1:c.7987C>T | XP_011539620.1:p.Arg2663Trp | |
| XM_011541319.1:c.7987C>T | XP_011539621.1:p.Arg2663Trp | |
| XM_011541320.1:c.7708C>T | XP_011539622.1:p.Arg2570Trp | |
| XM_011541321.1:c.7492C>T | XP_011539623.1:p.Arg2498Trp | |
| XM_011541318.2:c.7987C>T | XP_011539620.1:p.Arg2663Trp | |
| XM_017001120.1:c.7633C>T | XP_016856609.1:p.Arg2545Trp | |
| XM_017001121.1:c.7582C>T | XP_016856610.1:p.Arg2528Trp | |
| XM_017001122.1:c.7579C>T | XP_016856611.1:p.Arg2527Trp | |
| NM_005529.7:c.7438C>T MANE Select | NP_005520.4:p.Arg2480Trp | |
| NM_001291860.2:c.7441C>T | NP_001278789.1:p.Arg2481Trp |