Revel Score:
ENST00000274576 (MANE Select)
0.792
ENST00000455880
0.792
ENST00000545569
0.792
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151859984G>A , CM000667.2:g.151859984G>A | GRCh38 |
| NC_000005.9:g.151239545G>A , CM000667.1:g.151239545G>A | GRCh37 |
| NC_000005.8:g.151219738G>A | NCBI36 |
| NG_011764.1:g.69853C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.277C>T MANE Select | ENSP00000274576.5:p.Arg93Trp | |
| ENST00000274576.8:c.277C>T | ENSP00000274576.4:p.Arg93Trp | |
| ENST00000455880.2:c.277C>T | ENSP00000411593.2:p.Arg93Trp | |
| ENST00000462581.6:c.*35C>T | ENSP00000430595.1:n.*35C>T | |
| ENST00000471351.2:n.560C>T | ||
| NM_000171.3:c.277C>T | NP_000162.2:p.Arg93Trp | |
| NM_001146040.1:c.277C>T | NP_001139512.1:p.Arg93Trp | |
| NM_001292000.1:c.28C>T | NP_001278929.1:p.Arg10Trp | |
| XM_005268412.2:c.277C>T | XP_005268469.1:p.Arg93Trp | |
| XR_002956230.1:n.229+2091G>A | ||
| NM_000171.4:c.277C>T MANE Select | NP_000162.2:p.Arg93Trp | |
| NM_001146040.2:c.277C>T | NP_001139512.1:p.Arg93Trp | |
| NM_001292000.2:c.28C>T | NP_001278929.1:p.Arg10Trp |