Revel Score:
ENST00000379079
0.766
ENST00000332351
0.766
ENST00000530998
0.766
ENST00000452863 (MANE Select)
0.766
ENST00000448076
0.766
ENST00000526685
0.766
ENST00000527882
0.579
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32396314A>T , CM000673.2:g.32396314A>T | GRCh38 |
| NC_000011.9:g.32417860A>T , CM000673.1:g.32417860A>T | GRCh37 |
| NC_000011.8:g.32374436A>T | NCBI36 |
| NG_009272.1:g.44228T>A , LRG_525:g.44228T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1156T>A | ENSP00000331327.5:p.Cys386Ser | |
| ENST00000379077.9:c.*391T>A | ENSP00000368368.5:n.*391T>A | |
| ENST00000379079.8:c.556T>A | ENSP00000368370.2:p.Cys186Ser | |
| ENST00000448076.9:c.1207T>A | ENSP00000413452.5:p.Cys403Ser | |
| ENST00000452863.10:c.1207T>A MANE Select | ENSP00000415516.5:p.Cys403Ser | |
| ENST00000526685.2:n.661T>A | ||
| ENST00000639563.3:c.1156T>A | ENSP00000492269.3:p.Cys386Ser | |
| ENST00000639907.2:n.350T>A | ||
| ENST00000640146.2:c.532T>A | ENSP00000491984.2:p.Cys178Ser | |
| ENST00000650861.1:n.1788T>A | ||
| ENST00000651459.1:c.36-3559T>A | ||
| ENST00000651668.1:n.144T>A | ||
| ENST00000651794.1:n.950T>A | ||
| ENST00000651819.1:n.132T>A | ||
| ENST00000652579.1:n.367T>A | ||
| ENST00000652724.1:n.397T>A | ||
| ENST00000332351.7:c.1192T>A | ENSP00000331327.3:p.Cys398Ser | |
| ENST00000379077.7:c.*391T>A | ENSP00000368368.3:n.*391T>A | |
| ENST00000379079.6:c.556T>A | ENSP00000368370.2:p.Cys186Ser | |
| ENST00000448076.7:c.1192T>A | ENSP00000413452.3:p.Cys398Ser | |
| ENST00000452863.7:c.1141T>A | ENSP00000415516.3:p.Cys381Ser | |
| ENST00000526685.1:c.19T>A | ENSP00000436292.1:p.Cys7Ser | |
| ENST00000527882.5:c.263T>A | ||
| ENST00000530998.5:c.505T>A | ENSP00000435307.1:p.Cys169Ser | |
| NM_000378.4:c.1141T>A | NP_000369.3:p.Cys381Ser | |
| NM_001198551.1:c.556T>A , LRG_525t2:c.556T>A | NP_001185480.1:p.Cys186Ser | |
| NM_001198552.1:c.505T>A | NP_001185481.1:p.Cys169Ser | |
| NM_024424.3:c.1192T>A | NP_077742.2:p.Cys398Ser | |
| NM_024426.4:c.1192T>A | NP_077744.3:p.Cys398Ser | |
| NM_000378.5:c.1156T>A | NP_000369.4:p.Cys386Ser | |
| NM_024424.4:c.1207T>A | NP_077742.3:p.Cys403Ser | |
| NM_024426.5:c.1207T>A | NP_077744.4:p.Cys403Ser | |
| NM_001367854.1:c.19T>A | NP_001354783.1:p.Cys7Ser | |
| NR_160306.1:n.1539T>A | ||
| NM_000378.6:c.1156T>A | NP_000369.4:p.Cys386Ser | |
| NM_001198552.2:c.505T>A | NP_001185481.1:p.Cys169Ser | |
| NM_024424.5:c.1207T>A | NP_077742.3:p.Cys403Ser | |
| NM_024426.6:c.1207T>A MANE Select | NP_077744.4:p.Cys403Ser |