Revel Score:
ENST00000246337 (MANE Select)
0.868
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45014835C>T , CM000663.2:g.45014835C>T | GRCh38 |
| NC_000001.10:g.45480507C>T , CM000663.1:g.45480507C>T | GRCh37 |
| NC_000001.9:g.45253094C>T | NCBI36 |
| NG_007122.2:g.7678C>T | |
| NG_033058.1:g.1521G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246337.9:c.874C>T MANE Select | ENSP00000246337.4:p.Arg292Trp | |
| ENST00000491773.6:c.631C>T | ENSP00000498551.1:p.Arg211Trp | |
| ENST00000636293.1:c.736C>T | ENSP00000490710.1:p.Arg246Trp | |
| ENST00000636836.1:c.874C>T | ENSP00000490594.1:p.Arg292Trp | |
| ENST00000651476.1:c.769C>T | ENSP00000498668.1:p.Arg257Trp | |
| ENST00000652165.1:c.631C>T | ENSP00000498295.1:p.Arg211Trp | |
| ENST00000652287.1:c.811C>T | ENSP00000498413.1:p.Arg271Trp | |
| ENST00000652514.1:c.835C>T | ENSP00000498635.1:n.835C>T | |
| ENST00000246337.8:c.874C>T | ENSP00000246337.4:p.Arg292Trp | |
| ENST00000465678.1:n.289C>T | ||
| ENST00000466193.1:n.297C>T | ||
| ENST00000472254.1:n.627C>T | ||
| ENST00000494399.5:n.1541C>T | ||
| NM_000374.4:c.874C>T | NP_000365.3:p.Arg292Trp | |
| NR_036510.1:n.1057C>T | ||
| XM_005271169.1:c.658C>T | XP_005271226.1:p.Arg220Trp | |
| XM_005271170.1:c.658C>T | XP_005271227.1:p.Arg220Trp | |
| XM_011542080.1:c.811C>T | XP_011540382.1:p.Arg271Trp | |
| XM_011542081.1:c.706C>T | XP_011540383.1:p.Arg236Trp | |
| NM_000374.5:c.874C>T MANE Select | NP_000365.3:p.Arg292Trp | |
| NR_158184.1:n.955C>T | ||
| NR_158185.1:n.905C>T | ||
| NR_036510.2:n.936C>T |