Revel Score:
ENST00000540732
0.955
ENST00000269980 (MANE Select)
0.955
ENST00000457836
0.955
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424496T>G , CM000681.2:g.41424496T>G | GRCh38 |
| NC_000019.9:g.41930401T>G , CM000681.1:g.41930401T>G | GRCh37 |
| NC_000019.8:g.46622241T>G | NCBI36 |
| NG_013004.1:g.31708T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1226T>G MANE Select | ENSP00000269980.2:p.Phe409Cys | |
| ENST00000269980.6:c.1226T>G | ENSP00000269980.2:p.Phe409Cys | |
| ENST00000457836.6:c.1235T>G | ENSP00000416000.2:p.Phe412Cys | |
| ENST00000540732.3:c.1328T>G | ENSP00000443246.1:p.Phe443Cys | |
| ENST00000544905.1:c.62-6T>G | ||
| ENST00000595085.5:c.922+1799T>G | ENSP00000471150.2:n.922+1799T>G | |
| NM_000709.3:c.1226T>G | NP_000700.1:p.Phe409Cys | |
| NM_001164783.1:c.1223T>G | NP_001158255.1:p.Phe408Cys | |
| NM_000709.4:c.1226T>G MANE Select | NP_000700.1:p.Phe409Cys | |
| NM_001164783.2:c.1223T>G | NP_001158255.1:p.Phe408Cys |