Revel Score:
ENST00000379079
0.603
ENST00000332351
0.603
ENST00000530998
0.603
ENST00000452863 (MANE Select)
0.603
ENST00000448076
0.603
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32392705G>A , CM000673.2:g.32392705G>A | GRCh38 |
| NC_000011.9:g.32414251G>A , CM000673.1:g.32414251G>A | GRCh37 |
| NC_000011.8:g.32370827G>A | NCBI36 |
| NG_009272.1:g.47837C>T , LRG_525:g.47837C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1264C>T | ENSP00000331327.5:p.Arg422Cys | |
| ENST00000379077.9:c.*499C>T | ENSP00000368368.5:n.*499C>T | |
| ENST00000379079.8:c.664C>T | ENSP00000368370.2:p.Arg222Cys | |
| ENST00000448076.9:c.1315C>T | ENSP00000413452.5:p.Arg439Cys | |
| ENST00000452863.10:c.1315C>T MANE Select | ENSP00000415516.5:p.Arg439Cys | |
| ENST00000526685.2:n.769C>T | ||
| ENST00000639563.3:c.1264C>T | ENSP00000492269.3:p.Arg422Cys | |
| ENST00000639907.2:n.458C>T | ||
| ENST00000640146.2:c.640C>T | ENSP00000491984.2:p.Arg214Cys | |
| ENST00000650745.1:n.524C>T | ||
| ENST00000650861.1:n.1896C>T | ||
| ENST00000651459.1:c.86C>T | ||
| ENST00000651533.1:n.361C>T | ||
| ENST00000651668.1:n.252C>T | ||
| ENST00000651794.1:n.1158C>T | ||
| ENST00000651819.1:n.240C>T | ||
| ENST00000652579.1:n.575C>T | ||
| ENST00000652724.1:n.505C>T | ||
| ENST00000332351.7:c.1300C>T | ENSP00000331327.3:p.Arg434Cys | |
| ENST00000379077.7:c.*499C>T | ENSP00000368368.3:n.*499C>T | |
| ENST00000379079.6:c.664C>T | ENSP00000368370.2:p.Arg222Cys | |
| ENST00000448076.7:c.1300C>T | ENSP00000413452.3:p.Arg434Cys | |
| ENST00000452863.7:c.1249C>T | ENSP00000415516.3:p.Arg417Cys | |
| ENST00000527882.5:c.321-641C>T | ||
| ENST00000530998.5:c.613C>T | ENSP00000435307.1:p.Arg205Cys | |
| NM_000378.4:c.1249C>T | NP_000369.3:p.Arg417Cys | |
| NM_001198551.1:c.664C>T , LRG_525t2:c.664C>T | NP_001185480.1:p.Arg222Cys | |
| NM_001198552.1:c.613C>T | NP_001185481.1:p.Arg205Cys | |
| NM_024424.3:c.1300C>T | NP_077742.2:p.Arg434Cys | |
| NM_024426.4:c.1300C>T | NP_077744.3:p.Arg434Cys | |
| NM_000378.5:c.1264C>T | NP_000369.4:p.Arg422Cys | |
| NM_024424.4:c.1315C>T | NP_077742.3:p.Arg439Cys | |
| NM_024426.5:c.1315C>T | NP_077744.4:p.Arg439Cys | |
| NM_001367854.1:c.127C>T | NP_001354783.1:p.Arg43Cys | |
| NR_160306.1:n.1647C>T | ||
| NM_000378.6:c.1264C>T | NP_000369.4:p.Arg422Cys | |
| NM_001198552.2:c.613C>T | NP_001185481.1:p.Arg205Cys | |
| NM_024424.5:c.1315C>T | NP_077742.3:p.Arg439Cys | |
| NM_024426.6:c.1315C>T MANE Select | NP_077744.4:p.Arg439Cys |