Revel Score:
ENST00000268261 (MANE Select)
0.972
ENST00000539622
0.972
ENST00000537352
0.972
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8813090G>T , CM000678.2:g.8813090G>T | GRCh38 |
| NC_000016.9:g.8906947G>T , CM000678.1:g.8906947G>T | GRCh37 |
| NC_000016.8:g.8814448G>T | NCBI36 |
| NG_009209.1:g.20278G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567697.2:n.3791G>T | ||
| ENST00000682008.1:c.623G>T | ENSP00000507849.1:p.Gly208Val | |
| ENST00000682393.1:c.*241G>T | ENSP00000506774.1:n.*241G>T | |
| ENST00000683094.1:c.*245G>T | ENSP00000508230.1:n.*245G>T | |
| ENST00000683274.1:c.*163G>T | ENSP00000507262.1:n.*163G>T | |
| ENST00000683435.1:c.*519G>T | ENSP00000508092.1:n.*519G>T | |
| ENST00000268261.9:c.623G>T MANE Select | ENSP00000268261.4:p.Gly208Val | |
| ENST00000268261.8:c.623G>T | ENSP00000268261.4:p.Gly208Val | |
| ENST00000562318.5:c.*345G>T | ENSP00000454395.1:n.*345G>T | |
| ENST00000565221.5:c.*241G>T | ENSP00000457932.1:n.*241G>T | |
| ENST00000566540.5:c.*245G>T | ENSP00000454284.1:n.*245G>T | |
| ENST00000566604.5:c.*163G>T | ENSP00000456774.1:n.*163G>T | |
| ENST00000566983.5:c.542G>T | ENSP00000457956.1:p.Gly181Val | |
| ENST00000567697.1:n.3791G>T | ||
| ENST00000569958.5:c.350G>T | ENSP00000456302.1:p.Gly117Val | |
| ENST00000570076.5:c.*81G>T | ENSP00000456961.1:n.*81G>T | |
| ENST00000570134.5:c.*245G>T | ENSP00000456275.1:n.*245G>T | |
| NM_000303.2:c.623G>T | NP_000294.1:p.Gly208Val | |
| XM_005255372.3:c.623G>T | XP_005255429.1:p.Gly208Val | |
| XM_005255373.3:c.374G>T | XP_005255430.1:p.Gly125Val | |
| XM_005255374.3:c.374G>T | XP_005255431.1:p.Gly125Val | |
| XM_011522538.1:c.623G>T | XP_011520840.1:p.Gly208Val | |
| XM_011522539.1:c.248G>T | XP_011520841.1:p.Gly83Val | |
| XM_005255374.4:c.374G>T | XP_005255431.1:p.Gly125Val | |
| NM_000303.3:c.623G>T MANE Select | NP_000294.1:p.Gly208Val |