Revel Score:
ENST00000553106 (MANE Select)
0.557
ENST00000307000
0.557
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855217T>G , CM000674.2:g.102855217T>G | GRCh38 |
| NC_000012.11:g.103248995T>G , CM000674.1:g.103248995T>G | GRCh37 |
| NC_000012.10:g.101773125T>G | NCBI36 |
| NG_008690.1:g.67386A>C | |
| NG_008690.2:g.108194A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.625A>C MANE Select | ENSP00000448059.1:p.Ile209Leu | |
| ENST00000307000.7:c.610A>C | ENSP00000303500.2:p.Ile204Leu | |
| ENST00000549111.5:n.721A>C | ||
| ENST00000553106.5:c.625A>C | ENSP00000448059.1:p.Ile209Leu | |
| NM_000277.1:c.625A>C | NP_000268.1:p.Ile209Leu | |
| XM_011538422.1:c.625A>C | XP_011536724.1:p.Ile209Leu | |
| NM_000277.2:c.625A>C | NP_000268.1:p.Ile209Leu | |
| NM_001354304.1:c.625A>C | NP_001341233.1:p.Ile209Leu | |
| XM_017019370.2:c.625A>C | XP_016874859.1:p.Ile209Leu | |
| NM_000277.3:c.625A>C MANE Select | NP_000268.1:p.Ile209Leu | |
| NM_001354304.2:c.625A>C | NP_001341233.1:p.Ile209Leu |