Revel Score:
ENST00000553106 (MANE Select)
0.976
ENST00000307000
0.976
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852896A>C , CM000674.2:g.102852896A>C | GRCh38 |
| NC_000012.11:g.103246674A>C , CM000674.1:g.103246674A>C | GRCh37 |
| NC_000012.10:g.101770804A>C | NCBI36 |
| NG_008690.1:g.69707T>G | |
| NG_008690.2:g.110515T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.761T>G MANE Select | ENSP00000448059.1:p.Phe254Cys | |
| ENST00000307000.7:c.746T>G | ENSP00000303500.2:p.Phe249Cys | |
| ENST00000549247.6:n.520T>G | ||
| ENST00000553106.5:c.761T>G | ENSP00000448059.1:p.Phe254Cys | |
| NM_000277.1:c.761T>G | NP_000268.1:p.Phe254Cys | |
| XM_011538422.1:c.761T>G | XP_011536724.1:p.Phe254Cys | |
| NM_000277.2:c.761T>G | NP_000268.1:p.Phe254Cys | |
| NM_001354304.1:c.761T>G | NP_001341233.1:p.Phe254Cys | |
| NM_000277.3:c.761T>G MANE Select | NP_000268.1:p.Phe254Cys | |
| NM_001354304.2:c.761T>G | NP_001341233.1:p.Phe254Cys |