Revel Score:
ENST00000396044
0.431
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67723688T>A , CM000685.2:g.67723688T>A | GRCh38 |
| NC_000023.10:g.66943530T>A , CM000685.1:g.66943530T>A | GRCh37 |
| NC_000023.9:g.66860255T>A | NCBI36 |
| NG_009014.2:g.184657T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.*958T>A | ENSP00000379358.4:n.*958T>A | |
| ENST00000374690.9:c.2610T>A MANE Select | ENSP00000363822.3:p.Ile870= | |
| ENST00000396043.3:c.1237T>A | ENSP00000379358.3:n.1237T>A | |
| ENST00000396044.8:c.2176T>A | ENSP00000379359.3:p.Cys726Ser | |
| ENST00000612452.5:c.2610T>A | ENSP00000484033.2:p.Ile870= | |
| ENST00000374690.7:c.2610T>A | ENSP00000363822.3:p.Ile870= | |
| ENST00000396043.2:c.1014T>A | ENSP00000379358.2:p.Ile338= | |
| ENST00000396044.7:c.2176T>A | ENSP00000379359.3:p.Cys726Ser | |
| ENST00000612452.4:c.2061T>A | ENSP00000484033.1:p.Ile687= | |
| NM_000044.3:c.2610T>A | NP_000035.2:p.Ile870= | |
| NM_001011645.2:c.1014T>A | NP_001011645.1:p.Ile338= | |
| NM_000044.4:c.2610T>A | NP_000035.2:p.Ile870= | |
| NM_001011645.3:c.1014T>A | NP_001011645.1:p.Ile338= | |
| NM_000044.6:c.2610T>A MANE Select | NP_000035.2:p.Ile870= |