Revel Score:
ENST00000379079
0.512
ENST00000332351
0.512
ENST00000530998
0.512
ENST00000452863 (MANE Select)
0.512
ENST00000448076
0.512
ENST00000527882
0.326
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32392014C>A , CM000673.2:g.32392014C>A | GRCh38 |
| NC_000011.9:g.32413560C>A , CM000673.1:g.32413560C>A | GRCh37 |
| NC_000011.8:g.32370136C>A | NCBI36 |
| NG_009272.1:g.48528G>T , LRG_525:g.48528G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1354G>T | ENSP00000331327.5:p.Asp452Tyr | |
| ENST00000379077.9:c.*589G>T | ENSP00000368368.5:n.*589G>T | |
| ENST00000379079.8:c.754G>T | ENSP00000368370.2:p.Asp252Tyr | |
| ENST00000448076.9:c.1405G>T | ENSP00000413452.5:p.Asp469Tyr | |
| ENST00000452863.10:c.1405G>T MANE Select | ENSP00000415516.5:p.Asp469Tyr | |
| ENST00000526685.2:n.859G>T | ||
| ENST00000639563.3:c.1354G>T | ENSP00000492269.3:p.Asp452Tyr | |
| ENST00000639907.2:n.548G>T | ||
| ENST00000640146.2:c.730G>T | ENSP00000491984.2:p.Asp244Tyr | |
| ENST00000650745.1:n.1215G>T | ||
| ENST00000650861.1:n.1986G>T | ||
| ENST00000650986.1:n.68G>T | ||
| ENST00000651459.1:c.176G>T | ||
| ENST00000651533.1:n.451G>T | ||
| ENST00000651668.1:n.342G>T | ||
| ENST00000651794.1:n.1248G>T | ||
| ENST00000651819.1:n.330G>T | ||
| ENST00000652579.1:n.665G>T | ||
| ENST00000652724.1:n.595G>T | ||
| ENST00000332351.7:c.1390G>T | ENSP00000331327.3:p.Asp464Tyr | |
| ENST00000379077.7:c.*589G>T | ENSP00000368368.3:n.*589G>T | |
| ENST00000379079.6:c.754G>T | ENSP00000368370.2:p.Asp252Tyr | |
| ENST00000448076.7:c.1390G>T | ENSP00000413452.3:p.Asp464Tyr | |
| ENST00000452863.7:c.1339G>T | ENSP00000415516.3:p.Asp447Tyr | |
| ENST00000527882.5:c.371G>T | ||
| ENST00000530998.5:c.703G>T | ENSP00000435307.1:p.Asp235Tyr | |
| NM_000378.4:c.1339G>T | NP_000369.3:p.Asp447Tyr | |
| NM_001198551.1:c.754G>T , LRG_525t2:c.754G>T | NP_001185480.1:p.Asp252Tyr | |
| NM_001198552.1:c.703G>T | NP_001185481.1:p.Asp235Tyr | |
| NM_024424.3:c.1390G>T | NP_077742.2:p.Asp464Tyr | |
| NM_024426.4:c.1390G>T | NP_077744.3:p.Asp464Tyr | |
| NM_000378.5:c.1354G>T | NP_000369.4:p.Asp452Tyr | |
| NM_024424.4:c.1405G>T | NP_077742.3:p.Asp469Tyr | |
| NM_024426.5:c.1405G>T | NP_077744.4:p.Asp469Tyr | |
| NM_001367854.1:c.217G>T | NP_001354783.1:p.Asp73Tyr | |
| NR_160306.1:n.1737G>T | ||
| NM_000378.6:c.1354G>T | NP_000369.4:p.Asp452Tyr | |
| NM_001198552.2:c.703G>T | NP_001185481.1:p.Asp235Tyr | |
| NM_024424.5:c.1405G>T | NP_077742.3:p.Asp469Tyr | |
| NM_024426.6:c.1405G>T MANE Select | NP_077744.4:p.Asp469Tyr |