Revel Score:
ENST00000553106 (MANE Select)
0.902
ENST00000307000
0.902
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852895G>T , CM000674.2:g.102852895G>T | GRCh38 |
| NC_000012.11:g.103246673G>T , CM000674.1:g.103246673G>T | GRCh37 |
| NC_000012.10:g.101770803G>T | NCBI36 |
| NG_008690.1:g.69708C>A | |
| NG_008690.2:g.110516C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.762C>A MANE Select | ENSP00000448059.1:p.Phe254Leu | |
| ENST00000307000.7:c.747C>A | ENSP00000303500.2:p.Phe249Leu | |
| ENST00000549247.6:n.521C>A | ||
| ENST00000553106.5:c.762C>A | ENSP00000448059.1:p.Phe254Leu | |
| NM_000277.1:c.762C>A | NP_000268.1:p.Phe254Leu | |
| XM_011538422.1:c.762C>A | XP_011536724.1:p.Phe254Leu | |
| NM_000277.2:c.762C>A | NP_000268.1:p.Phe254Leu | |
| NM_001354304.1:c.762C>A | NP_001341233.1:p.Phe254Leu | |
| NM_000277.3:c.762C>A MANE Select | NP_000268.1:p.Phe254Leu | |
| NM_001354304.2:c.762C>A | NP_001341233.1:p.Phe254Leu |