Revel Score:
ENST00000298552 (MANE Select)
0.624
ENST00000440111
0.624
ENST00000545250
0.624
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001036 (NFE)
Exomes Max Group AF
0.00001017 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132897514G>A , CM000671.2:g.132897514G>A | GRCh38 |
| NC_000009.11:g.135772901G>A , CM000671.1:g.135772901G>A | GRCh37 |
| NC_000009.10:g.134762722G>A | NCBI36 |
| NG_012386.1:g.52120C>T , LRG_486:g.52120C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.2719C>T | ENSP00000496126.2:p.Arg907Trp | |
| ENST00000490179.4:c.2722C>T | ENSP00000495533.2:p.Arg908Trp | |
| ENST00000642261.2:c.*501C>T | ENSP00000494743.2:n.*501C>T | |
| ENST00000643275.2:c.*662C>T | ENSP00000495598.2:n.*662C>T | |
| ENST00000643362.2:c.2335C>T | ENSP00000496398.2:p.Arg779Trp | |
| ENST00000643625.2:c.*464C>T | ENSP00000495546.2:n.*464C>T | |
| ENST00000643691.2:c.2359C>T | ENSP00000494916.2:p.Arg787Trp | |
| ENST00000644184.2:c.2680C>T | ENSP00000495428.2:p.Arg894Trp | |
| ENST00000645129.2:c.2566C>T | ENSP00000493639.2:p.Arg856Trp | |
| ENST00000646440.2:c.2722C>T | ENSP00000495830.2:p.Arg908Trp | |
| ENST00000298552.9:c.2722C>T MANE Select | ENSP00000298552.3:p.Arg908Trp | |
| ENST00000642261.1:c.782C>T | ||
| ENST00000642617.1:c.2719C>T | ENSP00000493773.1:p.Arg907Trp | |
| ENST00000642627.1:c.2704C>T | ENSP00000496772.1:p.Arg902Trp | |
| ENST00000642811.1:c.*2492C>T | ENSP00000495554.1:n.*2492C>T | |
| ENST00000643072.1:c.2569C>T | ENSP00000496691.1:p.Arg857Trp | |
| ENST00000643275.1:c.1196C>T | ENSP00000495598.1:n.1196C>T | |
| ENST00000643583.1:c.2707C>T | ENSP00000494685.1:p.Arg903Trp | |
| ENST00000643625.1:c.599C>T | ENSP00000495546.1:n.599C>T | |
| ENST00000643875.1:c.2722C>T | ENSP00000495158.1:p.Arg908Trp | |
| ENST00000644097.1:c.2719C>T | ENSP00000494682.1:p.Arg907Trp | |
| ENST00000644184.1:c.1417C>T | ENSP00000495428.1:p.Arg473Trp | |
| ENST00000644255.1:c.*2489C>T | ENSP00000493608.1:n.*2489C>T | |
| ENST00000644319.1:n.3097C>T | ||
| ENST00000644786.1:n.381C>T | ||
| ENST00000644882.1:n.1635C>T | ||
| ENST00000645901.1:n.3573C>T | ||
| ENST00000646391.1:c.*2492C>T | ENSP00000494104.1:n.*2492C>T | |
| ENST00000646625.1:c.2722C>T | ENSP00000496263.1:p.Arg908Trp | |
| ENST00000647262.1:n.1687C>T | ||
| ENST00000647279.1:c.*1961C>T | ENSP00000494502.1:n.*1961C>T | |
| ENST00000647534.1:n.1786C>T | ||
| ENST00000298552.7:c.2722C>T | ENSP00000298552.3:p.Arg908Trp | |
| ENST00000440111.6:c.2722C>T | ENSP00000394524.2:p.Arg908Trp | |
| ENST00000545250.5:c.2569C>T | ENSP00000444017.1:p.Arg857Trp | |
| NM_000368.4:c.2722C>T , LRG_486t1:c.2722C>T | NP_000359.1:p.Arg908Trp | |
| NM_001162426.1:c.2719C>T | NP_001155898.1:p.Arg907Trp | |
| NM_001162427.1:c.2569C>T | NP_001155899.1:p.Arg857Trp | |
| XM_005272211.1:c.2722C>T | XP_005272268.1:p.Arg908Trp | |
| XM_006717271.1:c.2722C>T | XP_006717334.1:p.Arg908Trp | |
| XM_011518979.1:c.2722C>T | XP_011517281.1:p.Arg908Trp | |
| NM_001362177.1:c.2359C>T | NP_001349106.1:p.Arg787Trp | |
| XM_011518979.2:c.2722C>T | XP_011517281.1:p.Arg908Trp | |
| XM_017015096.1:c.2722C>T | XP_016870585.1:p.Arg908Trp | |
| XM_017015097.1:c.2722C>T | XP_016870586.1:p.Arg908Trp | |
| XM_017015098.1:c.2719C>T | XP_016870587.1:p.Arg907Trp | |
| XM_017015100.1:c.2359C>T | XP_016870589.1:p.Arg787Trp | |
| XM_017015101.1:c.2356C>T | XP_016870590.1:p.Arg786Trp | |
| NM_000368.5:c.2722C>T MANE Select | NP_000359.1:p.Arg908Trp | |
| NM_001162426.2:c.2719C>T | NP_001155898.1:p.Arg907Trp | |
| NM_001162427.2:c.2569C>T | NP_001155899.1:p.Arg857Trp | |
| NM_001362177.2:c.2359C>T | NP_001349106.1:p.Arg787Trp |