Revel Score:
ENST00000372325 (MANE Select)
0.550
ENST00000537207
0.550
ENST00000372327
0.550
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79557264C>A , CM000672.2:g.79557264C>A | GRCh38 |
| NC_000010.10:g.81317020C>A , CM000672.1:g.81317020C>A | GRCh37 |
| NG_013046.1:g.8144G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372325.7:c.692G>T MANE Select | ENSP00000361400.2:p.Gly231Val | |
| ENST00000372325.6:c.692G>T | ENSP00000361400.2:p.Gly231Val | |
| ENST00000372327.9:c.692G>T | ENSP00000361402.5:p.Gly231Val | |
| NM_001098668.2:c.692G>T | NP_001092138.1:p.Gly231Val | |
| XM_005270128.2:c.743G>T | XP_005270185.1:p.Gly248Val | |
| XM_005270131.3:c.692G>T | XP_005270188.1:p.Gly231Val | |
| XM_005270132.3:c.692G>T | XP_005270189.1:p.Gly231Val | |
| XM_011540124.1:c.692G>T | XP_011538426.1:p.Gly231Val | |
| XM_011540125.1:c.692G>T | XP_011538427.1:p.Gly231Val | |
| NM_001098668.3:c.692G>T | NP_001092138.1:p.Gly231Val | |
| NM_001320813.1:c.692G>T | NP_001307742.1:p.Gly231Val | |
| NM_001320814.1:c.722G>T | NP_001307743.1:p.Gly241Val | |
| XM_005270128.3:c.743G>T | XP_005270185.1:p.Gly248Val | |
| XM_017016608.1:c.692G>T | XP_016872097.1:p.Gly231Val | |
| NM_001098668.4:c.692G>T MANE Select | NP_001092138.1:p.Gly231Val | |
| NM_001320813.2:c.692G>T | NP_001307742.1:p.Gly231Val |