Revel Score:
ENST00000348749 (MANE Select)
0.950
ENST00000261007
0.950
ENST00000409542
0.950
ENST00000409219
0.950
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174750122A>G , CM000664.2:g.174750122A>G | GRCh38 |
| NC_000002.11:g.175614850A>G , CM000664.1:g.175614850A>G | GRCh37 |
| NC_000002.10:g.175323096A>G | NCBI36 |
| NG_008172.1:g.19351T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636168.2:c.337T>C | ENSP00000490338.2:p.Phe113Leu | |
| ENST00000672640.1:c.337T>C | ENSP00000500507.1:p.Phe113Leu | |
| ENST00000261007.9:c.901T>C | ENSP00000261007.5:p.Phe301Leu | |
| ENST00000348749.9:c.826T>C MANE Select | ENSP00000261008.5:p.Phe276Leu | |
| ENST00000409219.5:c.826T>C | ENSP00000386611.1:p.Phe276Leu | |
| ENST00000409542.5:c.580T>C | ENSP00000387026.1:p.Phe194Leu | |
| ENST00000435083.5:c.*470T>C | ENSP00000395805.1:n.*470T>C | |
| NM_000079.3:c.826T>C | NP_000070.1:p.Phe276Leu | |
| NM_001039523.2:c.901T>C | NP_001034612.1:p.Phe301Leu | |
| XM_017003256.1:c.922T>C | XP_016858745.1:p.Phe308Leu | |
| XM_017003257.1:c.847T>C | XP_016858746.1:p.Phe283Leu | |
| NM_000079.4:c.826T>C MANE Select | NP_000070.1:p.Phe276Leu | |
| NM_001039523.3:c.901T>C | NP_001034612.1:p.Phe301Leu |