Revel Score:
ENST00000262406 (MANE Select)
0.220
ENST00000449996
0.220
ENST00000443584
0.220
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.65190194C>T , CM000679.2:g.65190194C>T | GRCh38 |
| NC_000017.10:g.63186312C>T , CM000679.1:g.63186312C>T | GRCh37 |
| NC_000017.9:g.60616774C>T | NCBI36 |
| NG_013021.1:g.57857C>T | |
| NG_013021.2:g.57857C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262406.10:c.704C>T MANE Select | ENSP00000262406.9:p.Ala235Val | |
| ENST00000635833.1:c.704C>T | ENSP00000490658.1:p.Ala235Val | |
| ENST00000262406.9:c.704C>T | ENSP00000262406.9:p.Ala235Val | |
| ENST00000443584.7:c.695C>T | ENSP00000405814.3:p.Ala232Val | |
| ENST00000449996.7:c.695C>T | ENSP00000396329.3:p.Ala232Val | |
| ENST00000577595.1:n.632C>T | ||
| ENST00000581175.5:n.712C>T | ||
| ENST00000584234.5:c.704C>T | ENSP00000463410.1:p.Ala235Val | |
| NM_001081955.2:c.695C>T | NP_001075424.1:p.Ala232Val | |
| NM_001165933.1:c.695C>T | NP_001159405.1:p.Ala232Val | |
| NM_003835.3:c.704C>T | NP_003826.2:p.Ala235Val | |
| XM_011525426.1:c.116C>T | XP_011523728.1:p.Ala39Val | |
| XM_011525426.3:c.116C>T | XP_011523728.1:p.Ala39Val | |
| NM_003835.4:c.704C>T MANE Select | NP_003826.2:p.Ala235Val | |
| NM_001081955.3:c.695C>T | NP_001075424.1:p.Ala232Val | |
| NM_001165933.2:c.695C>T | NP_001159405.1:p.Ala232Val |