Revel Score:
ENST00000268261 (MANE Select)
0.699
ENST00000539622
0.699
ENST00000537352
0.699
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002863 (SAS)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00002995 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8811674C>T , CM000678.2:g.8811674C>T | GRCh38 |
| NC_000016.9:g.8905531C>T , CM000678.1:g.8905531C>T | GRCh37 |
| NC_000016.8:g.8813032C>T | NCBI36 |
| NG_009209.1:g.18862C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567697.2:n.3652C>T | ||
| ENST00000682008.1:c.484C>T | ENSP00000507849.1:p.Arg162Trp | |
| ENST00000682393.1:c.*102C>T | ENSP00000506774.1:n.*102C>T | |
| ENST00000683094.1:c.*106C>T | ENSP00000508230.1:n.*106C>T | |
| ENST00000683274.1:c.*24C>T | ENSP00000507262.1:n.*24C>T | |
| ENST00000683435.1:c.*380C>T | ENSP00000508092.1:n.*380C>T | |
| ENST00000268261.9:c.484C>T MANE Select | ENSP00000268261.4:p.Arg162Trp | |
| ENST00000268261.8:c.484C>T | ENSP00000268261.4:p.Arg162Trp | |
| ENST00000562318.5:c.*206C>T | ENSP00000454395.1:n.*206C>T | |
| ENST00000564069.1:c.451C>T | ||
| ENST00000565221.5:c.*102C>T | ENSP00000457932.1:n.*102C>T | |
| ENST00000566540.5:c.*106C>T | ENSP00000454284.1:n.*106C>T | |
| ENST00000566604.5:c.*24C>T | ENSP00000456774.1:n.*24C>T | |
| ENST00000566983.5:c.403C>T | ENSP00000457956.1:p.Arg135Trp | |
| ENST00000567697.1:n.3652C>T | ||
| ENST00000569958.5:c.211C>T | ENSP00000456302.1:p.Arg71Trp | |
| ENST00000570076.5:c.215C>T | ENSP00000456961.1:p.Thr72Met | |
| ENST00000570134.5:c.*106C>T | ENSP00000456275.1:n.*106C>T | |
| NM_000303.2:c.484C>T | NP_000294.1:p.Arg162Trp | |
| XM_005255372.3:c.484C>T | XP_005255429.1:p.Arg162Trp | |
| XM_005255373.3:c.235C>T | XP_005255430.1:p.Arg79Trp | |
| XM_005255374.3:c.235C>T | XP_005255431.1:p.Arg79Trp | |
| XM_011522538.1:c.484C>T | XP_011520840.1:p.Arg162Trp | |
| XM_011522539.1:c.109C>T | XP_011520841.1:p.Arg37Trp | |
| XM_005255374.4:c.235C>T | XP_005255431.1:p.Arg79Trp | |
| NM_000303.3:c.484C>T MANE Select | NP_000294.1:p.Arg162Trp |