Revel Score:
ENST00000352410 (MANE Select)
0.303
ENST00000535694
0.303
ENST00000323744
0.303
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01189404 (NFE)
Genomes Max Group AF
0.0102135 (NFE)
Exomes Max Group AF
0.01196101 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74897148C>T , CM000677.2:g.74897148C>T | GRCh38 |
| NC_000015.9:g.75189489C>T , CM000677.1:g.75189489C>T | GRCh37 |
| NC_000015.8:g.72976542C>T | NCBI36 |
| NG_008921.1:g.12080C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352410.9:c.982C>T MANE Select | ENSP00000318318.6:p.Arg328Trp | |
| ENST00000323744.10:c.799C>T | ENSP00000318192.6:p.Arg267Trp | |
| ENST00000352410.8:c.982C>T | ENSP00000318318.6:p.Arg328Trp | |
| ENST00000535694.5:c.832C>T | ENSP00000440447.1:p.Arg278Trp | |
| ENST00000562800.5:c.256-391C>T | ENSP00000457619.1:n.256-391C>T | |
| ENST00000563786.5:c.922C>T | ENSP00000455241.1:p.Arg308Trp | |
| ENST00000566377.5:c.845-364C>T | ENSP00000455405.1:n.845-364C>T | |
| ENST00000566556.1:n.1715C>T | ||
| ENST00000567177.1:c.623-364C>T | ENSP00000457013.1:n.623-364C>T | |
| NM_001289155.1:c.845-364C>T | NP_001276084.1:n.845-364C>T | |
| NM_001289156.1:c.832C>T | NP_001276085.1:p.Arg278Trp | |
| NM_001289157.1:c.799C>T | NP_001276086.1:p.Arg267Trp | |
| NM_002435.2:c.982C>T | NP_002426.1:p.Arg328Trp | |
| XM_011521592.1:c.970C>T | XP_011519894.1:p.Arg324Trp | |
| XM_011521593.1:c.922C>T | XP_011519895.1:p.Arg308Trp | |
| NM_001330372.1:c.922C>T | NP_001317301.1:p.Arg308Trp | |
| XM_017022208.1:c.785-364C>T | XP_016877697.1:n.785-364C>T | |
| XM_017022209.2:c.695-364C>T | XP_016877698.1:n.695-364C>T | |
| NM_002435.3:c.982C>T MANE Select | NP_002426.1:p.Arg328Trp | |
| NM_001289155.2:c.845-364C>T | NP_001276084.1:n.845-364C>T | |
| NM_001289156.2:c.832C>T | NP_001276085.1:p.Arg278Trp | |
| NM_001289157.2:c.799C>T | NP_001276086.1:p.Arg267Trp | |
| NM_001330372.2:c.922C>T | NP_001317301.1:p.Arg308Trp |