Revel Score:
ENST00000368666 (MANE Select)
0.683
ENST00000230529
0.683
ENST00000361714
0.683
ENST00000541400
0.683
ENST00000368663
0.683
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112061284T>G , CM000668.2:g.112061284T>G | GRCh38 |
| NC_000006.11:g.112382487T>G , CM000668.1:g.112382487T>G | GRCh37 |
| NC_000006.10:g.112489180T>G | NCBI36 |
| NG_011748.1:g.12210T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368666.7:c.342T>G MANE Select | ENSP00000357655.4:p.Cys114Trp | |
| ENST00000639360.1:c.246T>G | ENSP00000491774.1:p.Cys82Trp | |
| ENST00000230529.9:c.342T>G | ENSP00000230529.5:p.Cys114Trp | |
| ENST00000361714.5:c.342T>G | ENSP00000354734.2:p.Cys114Trp | |
| ENST00000368663.4:c.342T>G | ENSP00000357652.4:p.Cys114Trp | |
| ENST00000368664.7:c.396T>G | ENSP00000357653.3:p.Cys132Trp | |
| ENST00000368666.6:c.396T>G | ENSP00000357655.3:p.Cys132Trp | |
| ENST00000409166.5:c.-502T>G | ENSP00000386467.1:n.-502T>G | |
| ENST00000454589.5:c.342T>G | ENSP00000395928.1:p.Cys114Trp | |
| ENST00000604763.5:c.342T>G | ENSP00000473777.1:p.Cys114Trp | |
| ENST00000613648.1:n.6T>G | ||
| ENST00000620524.3:n.276T>G | ||
| NM_003880.3:c.342T>G | NP_003871.1:p.Cys114Trp | |
| NM_198239.1:c.396T>G | NP_937882.1:p.Cys132Trp | |
| NR_125353.1:n.532T>G | ||
| NR_125354.1:n.452T>G | ||
| XM_011536220.1:c.342T>G | XP_011534522.1:p.Cys114Trp | |
| XM_011536221.1:c.405T>G | XP_011534523.1:p.Cys135Trp | |
| XM_011536222.1:c.480T>G | XP_011534524.1:p.Cys160Trp | |
| XM_011536222.2:c.405T>G | XP_011534524.2:p.Cys135Trp | |
| XR_001743705.1:n.880T>G | ||
| NM_003880.4:c.342T>G | NP_003871.1:p.Cys114Trp | |
| NM_198239.2:c.342T>G MANE Select | NP_937882.2:p.Cys114Trp | |
| NR_125353.2:n.596T>G | ||
| NR_125354.3:n.423T>G |