Revel Score:
ENST00000553106 (MANE Select)
0.478
ENST00000307000
0.478
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855215A>C , CM000674.2:g.102855215A>C | GRCh38 |
| NC_000012.11:g.103248993A>C , CM000674.1:g.103248993A>C | GRCh37 |
| NC_000012.10:g.101773123A>C | NCBI36 |
| NG_008690.1:g.67388T>G | |
| NG_008690.2:g.108196T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.627T>G MANE Select | ENSP00000448059.1:p.Ile209Met | |
| ENST00000307000.7:c.612T>G | ENSP00000303500.2:p.Ile204Met | |
| ENST00000549111.5:n.723T>G | ||
| ENST00000553106.5:c.627T>G | ENSP00000448059.1:p.Ile209Met | |
| NM_000277.1:c.627T>G | NP_000268.1:p.Ile209Met | |
| XM_011538422.1:c.627T>G | XP_011536724.1:p.Ile209Met | |
| NM_000277.2:c.627T>G | NP_000268.1:p.Ile209Met | |
| NM_001354304.1:c.627T>G | NP_001341233.1:p.Ile209Met | |
| XM_017019370.2:c.627T>G | XP_016874859.1:p.Ile209Met | |
| NM_000277.3:c.627T>G MANE Select | NP_000268.1:p.Ile209Met | |
| NM_001354304.2:c.627T>G | NP_001341233.1:p.Ile209Met |