Revel Score:
ENST00000355112 (MANE Select)
0.862
ENST00000536925
0.862
ENST00000543977
0.862
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90794344G>A , CM000677.2:g.90794344G>A | GRCh38 |
| NC_000015.9:g.91337574G>A , CM000677.1:g.91337574G>A | GRCh37 |
| NC_000015.8:g.89138578G>A | NCBI36 |
| NG_007272.1:g.81973G>A , LRG_20:g.81973G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.3197G>A MANE Select | ENSP00000347232.3:p.Cys1066Tyr | |
| ENST00000560559.2:n.1770G>A | ||
| ENST00000648453.1:c.3197G>A | ENSP00000497646.1:p.Cys1066Tyr | |
| ENST00000680772.1:c.3197G>A | ENSP00000506117.1:p.Cys1066Tyr | |
| ENST00000681142.1:c.3197G>A | ENSP00000506682.1:p.Cys1066Tyr | |
| ENST00000355112.7:c.3197G>A | ENSP00000347232.3:p.Cys1066Tyr | |
| ENST00000558825.5:n.544G>A | ||
| ENST00000559724.5:c.*2121G>A | ENSP00000453359.1:n.*2121G>A | |
| ENST00000560136.5:n.1223G>A | ||
| ENST00000560509.5:c.3197G>A | ENSP00000454158.1:p.Cys1066Tyr | |
| ENST00000560559.1:n.734G>A | ||
| NM_000057.3:c.3197G>A | NP_000048.1:p.Cys1066Tyr | |
| NM_001287246.1:c.3197G>A | NP_001274175.1:p.Cys1066Tyr | |
| NM_001287247.1:c.3197G>A | NP_001274176.1:p.Cys1066Tyr | |
| NM_001287248.1:c.2072G>A | NP_001274177.1:p.Cys691Tyr | |
| XM_006720632.2:c.1235G>A | XP_006720695.1:p.Cys412Tyr | |
| XM_011521881.1:c.1883G>A | XP_011520183.1:p.Cys628Tyr | |
| XM_011521881.2:c.1883G>A | XP_011520183.1:p.Cys628Tyr | |
| NM_000057.4:c.3197G>A MANE Select | NP_000048.1:p.Cys1066Tyr | |
| NM_001287246.2:c.3197G>A | NP_001274175.1:p.Cys1066Tyr | |
| NM_001287247.2:c.3197G>A | NP_001274176.1:p.Cys1066Tyr | |
| NM_001287248.2:c.2072G>A | NP_001274177.1:p.Cys691Tyr |