Revel Score:
ENST00000520113 (MANE Select)
0.941
ENST00000369538
0.941
ENST00000353928
0.941
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677927A>C , CM000663.2:g.114677927A>C | GRCh38 |
| NC_000001.10:g.115220548A>C , CM000663.1:g.115220548A>C | GRCh37 |
| NC_000001.9:g.115022071A>C | NCBI36 |
| NG_008012.1:g.22629T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1195T>G | ENSP00000358551.4:p.Phe399Val | |
| ENST00000520113.7:c.1207T>G MANE Select | ENSP00000430075.3:p.Phe403Val | |
| ENST00000637080.1:c.990T>G | ENSP00000489753.1:n.990T>G | |
| ENST00000639077.1:n.872T>G | ||
| ENST00000369538.3:c.1294T>G | ENSP00000358551.3:p.Phe432Val | |
| ENST00000520113.6:c.1306T>G | ENSP00000430075.2:p.Phe436Val | |
| NM_000036.2:c.1306T>G | NP_000027.2:p.Phe436Val | |
| NM_001172626.1:c.1294T>G | NP_001166097.1:p.Phe432Val | |
| NM_000036.3:c.1207T>G MANE Select | NP_000027.3:p.Phe403Val | |
| NM_001172626.2:c.1195T>G | NP_001166097.2:p.Phe399Val |