Revel Score:
ENST00000268695 (MANE Select)
0.834
ENST00000542788
0.834
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88841001A>G , CM000678.2:g.88841001A>G | GRCh38 |
| NC_000016.9:g.88907409A>G , CM000678.1:g.88907409A>G | GRCh37 |
| NC_000016.8:g.87434910A>G | NCBI36 |
| NG_008667.1:g.20966T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.413T>C MANE Select | ENSP00000268695.5:p.Val138Ala | |
| ENST00000268695.9:c.413T>C | ENSP00000268695.5:p.Val138Ala | |
| ENST00000562593.5:n.3822T>C | ||
| ENST00000562831.1:c.197T>C | ENSP00000455174.1:p.Val66Ala | |
| ENST00000565364.1:n.548T>C | ||
| ENST00000567525.5:c.238T>C | ENSP00000454484.1:n.238T>C | |
| ENST00000567779.1:n.243T>C | ||
| ENST00000568613.5:c.532T>C | ENSP00000457921.1:n.532T>C | |
| NM_000512.4:c.413T>C | NP_000503.1:p.Val138Ala | |
| XM_005256301.2:c.413T>C | XP_005256358.1:p.Val138Ala | |
| XM_005256302.1:c.431T>C | XP_005256359.1:p.Val144Ala | |
| XM_011522982.1:c.431T>C | XP_011521284.1:p.Val144Ala | |
| XM_011522984.1:c.431T>C | XP_011521286.1:p.Val144Ala | |
| NM_001323543.1:c.-143T>C | NP_001310472.1:n.-143T>C | |
| NM_001323544.1:c.431T>C | NP_001310473.1:p.Val144Ala | |
| XM_005256301.3:c.413T>C | XP_005256358.1:p.Val138Ala | |
| XM_011522982.2:c.431T>C | XP_011521284.1:p.Val144Ala | |
| XM_017023111.2:c.431T>C | XP_016878600.1:p.Val144Ala | |
| XM_017023112.2:c.431T>C | XP_016878601.1:p.Val144Ala | |
| XM_017023113.1:c.-143T>C | XP_016878602.1:n.-143T>C | |
| NM_000512.5:c.413T>C MANE Select | NP_000503.1:p.Val138Ala | |
| NM_001323543.2:c.-143T>C | NP_001310472.1:n.-143T>C | |
| NM_001323544.2:c.431T>C | NP_001310473.1:p.Val144Ala |