Revel Score:
ENST00000553106 (MANE Select)
0.555
ENST00000307000
0.555
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844349A>T , CM000674.2:g.102844349A>T | GRCh38 |
| NC_000012.11:g.103238127A>T , CM000674.1:g.103238127A>T | GRCh37 |
| NC_000012.10:g.101762257A>T | NCBI36 |
| NG_008690.1:g.78254T>A | |
| NG_008690.2:g.119062T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1052T>A MANE Select | ENSP00000448059.1:p.Phe351Tyr | |
| ENST00000307000.7:c.1037T>A | ENSP00000303500.2:p.Phe346Tyr | |
| ENST00000549247.6:n.811T>A | ||
| ENST00000551114.2:n.714T>A | ||
| ENST00000553106.5:c.1052T>A | ENSP00000448059.1:p.Phe351Tyr | |
| ENST00000635477.1:c.156T>A | ||
| ENST00000635528.1:n.567T>A | ||
| NM_000277.1:c.1052T>A | NP_000268.1:p.Phe351Tyr | |
| XM_011538422.1:c.995T>A | XP_011536724.1:p.Phe332Tyr | |
| NM_000277.2:c.1052T>A | NP_000268.1:p.Phe351Tyr | |
| NM_001354304.1:c.1052T>A | NP_001341233.1:p.Phe351Tyr | |
| NM_000277.3:c.1052T>A MANE Select | NP_000268.1:p.Phe351Tyr | |
| NM_001354304.2:c.1052T>A | NP_001341233.1:p.Phe351Tyr |