Revel Score:
ENST00000328273
0.677
ENST00000424889
0.677
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30751594T>A , CM000678.2:g.30751594T>A | GRCh38 |
| NC_000016.9:g.30762915T>A , CM000678.1:g.30762915T>A | GRCh37 |
| NC_000016.8:g.30670416T>A | NCBI36 |
| NG_016616.1:g.8296T>A | |
| NG_016616.2:g.8296T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563588.6:c.317T>A MANE Select | ENSP00000455607.1:p.Val106Glu | |
| ENST00000328273.11:c.317T>A | ENSP00000329968.7:p.Val106Glu | |
| ENST00000424889.7:c.317T>A | ENSP00000388571.3:p.Val106Glu | |
| ENST00000563588.5:c.317T>A | ENSP00000455607.1:p.Val106Glu | |
| ENST00000563607.1:c.253T>A | ENSP00000454641.1:p.Cys85Ser | |
| ENST00000563913.5:n.650T>A | ||
| ENST00000564838.5:n.691T>A | ||
| ENST00000565897.5:c.317T>A | ENSP00000457359.1:p.Val106Glu | |
| ENST00000565924.5:c.317T>A | ENSP00000455091.1:p.Val106Glu | |
| ENST00000569762.1:n.561T>A | ||
| NM_000294.2:c.317T>A | NP_000285.1:p.Val106Glu | |
| NM_001172432.1:c.317T>A | NP_001165903.1:p.Val106Glu | |
| NM_000294.3:c.317T>A MANE Select | NP_000285.1:p.Val106Glu | |
| NM_001172432.2:c.317T>A | NP_001165903.1:p.Val106Glu |