Revel Score:
ENST00000540732
0.925
ENST00000269980 (MANE Select)
0.925
ENST00000457836
0.925
ENST00000378196
0.925
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002988 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00002913 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41411004C>T , CM000681.2:g.41411004C>T | GRCh38 |
| NC_000019.9:g.41916909C>T , CM000681.1:g.41916909C>T | GRCh37 |
| NC_000019.8:g.46608749C>T | NCBI36 |
| NG_013004.1:g.18216C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.370C>T MANE Select | ENSP00000269980.2:p.Arg124Trp | |
| ENST00000269980.6:c.370C>T | ENSP00000269980.2:p.Arg124Trp | |
| ENST00000457836.6:c.304C>T | ENSP00000416000.2:p.Arg102Trp | |
| ENST00000538423.5:n.496C>T | ||
| ENST00000540732.3:c.472C>T | ENSP00000443246.1:p.Arg158Trp | |
| ENST00000541315.1:c.177C>T | ||
| ENST00000542943.5:c.288+188C>T | ENSP00000440345.1:n.288+188C>T | |
| ENST00000595085.5:c.370C>T | ENSP00000471150.2:p.Arg124Trp | |
| NM_000709.3:c.370C>T | NP_000700.1:p.Arg124Trp | |
| NM_001164783.1:c.370C>T | NP_001158255.1:p.Arg124Trp | |
| NM_000709.4:c.370C>T MANE Select | NP_000700.1:p.Arg124Trp | |
| NM_001164783.2:c.370C>T | NP_001158255.1:p.Arg124Trp |