Revel Score:
ENST00000502525
0.516
ENST00000507827
0.516
ENST00000336356 (MANE Select)
0.516
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154744489C>T , CM000666.2:g.154744489C>T | GRCh38 |
| NC_000004.11:g.155665641C>T , CM000666.1:g.155665641C>T | GRCh37 |
| NC_000004.10:g.155885091C>T | NCBI36 |
| NG_009110.1:g.5479C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336356.4:c.163C>T MANE Select | ENSP00000337224.3:p.Arg55Trp | |
| ENST00000336356.3:c.163C>T | ENSP00000337224.3:p.Arg55Trp | |
| ENST00000499392.1:n.472-3700C>T | ||
| ENST00000502525.5:c.163C>T | ENSP00000422324.1:p.Arg55Trp | |
| ENST00000507827.5:c.163C>T | ENSP00000426761.1:p.Arg55Trp | |
| ENST00000510733.1:n.490C>T | ||
| NM_001301645.1:c.163C>T | NP_001288574.1:p.Arg55Trp | |
| NM_004744.4:c.163C>T | NP_004735.2:p.Arg55Trp | |
| XM_006714412.2:c.163C>T | XP_006714475.1:p.Arg55Trp | |
| XR_938793.1:n.499C>T | ||
| XR_938793.2:n.495C>T | ||
| NM_004744.5:c.163C>T MANE Select | NP_004735.2:p.Arg55Trp | |
| NM_001301645.2:c.163C>T | NP_001288574.1:p.Arg55Trp |