Revel Score:
ENST00000268124 (MANE Select)
0.856
ENST00000442287
0.856
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89318706A>G , CM000677.2:g.89318706A>G | GRCh38 |
| NC_000015.9:g.89861937A>G , CM000677.1:g.89861937A>G | GRCh37 |
| NC_000015.8:g.87662941A>G | NCBI36 |
| NG_008218.1:g.21090T>C | |
| NG_011736.1:g.79744A>G , LRG_500:g.79744A>G | |
| NG_008218.2:g.21090T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3317T>C | ENSP00000516154.1:p.Val1106Ala | |
| ENST00000268124.11:c.3317T>C MANE Select | ENSP00000268124.5:p.Val1106Ala | |
| ENST00000530292.3:c.2918T>C | ENSP00000432885.2:p.Val973Ala | |
| ENST00000635986.2:c.*387T>C | ENSP00000490653.2:n.*387T>C | |
| ENST00000636774.1:c.*1884T>C | ENSP00000489799.1:n.*1884T>C | |
| ENST00000637238.1:c.2126T>C | ENSP00000490756.1:n.2126T>C | |
| ENST00000637264.1:c.2389T>C | ||
| ENST00000666746.1:c.2894T>C | ||
| ENST00000672071.1:n.3515T>C | ||
| ENST00000672695.1:n.494T>C | ||
| ENST00000672923.2:n.3317T>C | ||
| ENST00000268124.9:c.3317T>C | ENSP00000268124.5:p.Val1106Ala | |
| ENST00000442287.6:c.3317T>C | ENSP00000399851.2:p.Val1106Ala | |
| ENST00000530292.2:c.401T>C | ENSP00000432885.1:p.Val134Ala | |
| ENST00000631044.2:c.*2741T>C | ENSP00000486730.1:n.*2741T>C | |
| NM_001126131.1:c.3317T>C | NP_001119603.1:p.Val1106Ala | |
| NM_002693.2:c.3317T>C | NP_002684.1:p.Val1106Ala | |
| NM_001126131.2:c.3317T>C | NP_001119603.1:p.Val1106Ala | |
| NM_002693.3:c.3317T>C MANE Select | NP_002684.1:p.Val1106Ala |