Revel Score:
ENST00000540413
0.764
ENST00000263431 (MANE Select)
0.764
ENST00000542049
0.764
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53906730T>A , CM000681.2:g.53906730T>A | GRCh38 |
| NC_000019.9:g.54409984T>A , CM000681.1:g.54409984T>A | GRCh37 |
| NC_000019.8:g.59101796T>A | NCBI36 |
| NG_009114.1:g.29518T>A , LRG_669:g.29518T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.1929T>A | ENSP00000507230.1:p.Phe643Leu | |
| ENST00000682676.1:n.1330T>A | ||
| ENST00000683513.1:c.1821T>A | ENSP00000506809.1:p.Phe607Leu | |
| ENST00000263431.4:c.1929T>A MANE Select | ENSP00000263431.3:p.Phe643Leu | |
| ENST00000263431.3:c.1929T>A | ENSP00000263431.3:p.Phe643Leu | |
| NM_001316329.1:c.1929T>A | NP_001303258.1:p.Phe643Leu | |
| NM_002739.3:c.1929T>A , LRG_669t1:c.1929T>A | NP_002730.1:p.Phe643Leu | |
| NM_002739.4:c.1929T>A | NP_002730.1:p.Phe643Leu | |
| XM_011527108.1:c.1020T>A | XP_011525410.1:p.Phe340Leu | |
| NM_002739.5:c.1929T>A MANE Select | NP_002730.1:p.Phe643Leu | |
| NM_001316329.2:c.1929T>A | NP_001303258.1:p.Phe643Leu |