Revel Score:
ENST00000394555
0.709
ENST00000394554
0.709
ENST00000405693
0.709
ENST00000424836
0.709
ENST00000355426 (MANE Select)
0.709
gnomAD v4:
Joint Max Group AF
0.00000954 (NFE)
Exomes Max Group AF
0.00001012 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55871091G>A , CM000664.2:g.55871091G>A | GRCh38 |
| NC_000002.11:g.56098226G>A , CM000664.1:g.56098226G>A | GRCh37 |
| NC_000002.10:g.55951730G>A | NCBI36 |
| NG_009098.1:g.57707C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355426.8:c.1033C>T MANE Select | ENSP00000347596.3:p.Arg345Trp | |
| ENST00000355426.7:c.1033C>T | ENSP00000347596.3:p.Arg345Trp | |
| ENST00000394555.6:c.1033C>T | ENSP00000378058.2:p.Arg345Trp | |
| ENST00000634374.1:c.392C>T | ||
| ENST00000635671.1:c.*685C>T | ENSP00000489578.1:n.*685C>T | |
| NM_001039348.2:c.1033C>T | NP_001034437.1:p.Arg345Trp | |
| NM_001039349.2:c.1033C>T | NP_001034438.1:p.Arg345Trp | |
| XM_005264205.3:c.1183C>T | XP_005264262.1:p.Arg395Trp | |
| XR_940108.1:n.229-2792G>A | ||
| XM_005264205.4:c.1183C>T | XP_005264262.1:p.Arg395Trp | |
| XM_017003586.2:c.793C>T | XP_016859075.1:p.Arg265Trp | |
| XM_024452755.1:c.1033C>T | XP_024308523.1:p.Arg345Trp | |
| XM_024452756.1:c.1033C>T | XP_024308524.1:p.Arg345Trp | |
| XM_024452757.1:c.793C>T | XP_024308525.1:p.Arg265Trp | |
| XR_002959388.1:n.229-2792G>A | ||
| NM_001039348.3:c.1033C>T MANE Select | NP_001034437.1:p.Arg345Trp | |
| NM_001039349.3:c.1033C>T | NP_001034438.1:p.Arg345Trp |