Revel Score:
ENST00000401061 (MANE Select)
0.892
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000738 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45508982C>T , CM000663.2:g.45508982C>T | GRCh38 |
| NC_000001.10:g.45974654C>T , CM000663.1:g.45974654C>T | GRCh37 |
| NC_000001.9:g.45747241C>T | NCBI36 |
| NG_013378.1:g.13799C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.616C>T MANE Select | ENSP00000383840.4:p.Arg206Trp | |
| ENST00000401061.8:c.616C>T | ENSP00000383840.4:p.Arg206Trp | |
| ENST00000616135.1:c.445C>T | ENSP00000478859.1:p.Arg149Trp | |
| NM_015506.2:c.616C>T | NP_056321.2:p.Arg206Trp | |
| XM_005270724.3:c.421C>T | XP_005270781.1:p.Arg141Trp | |
| XM_011541204.1:c.445C>T | XP_011539506.1:p.Arg149Trp | |
| NM_001330540.1:c.445C>T | NP_001317469.1:p.Arg149Trp | |
| XM_005270724.5:c.421C>T | XP_005270781.1:p.Arg141Trp | |
| NM_015506.3:c.616C>T MANE Select | NP_056321.2:p.Arg206Trp | |
| NM_001330540.2:c.445C>T | NP_001317469.1:p.Arg149Trp |