Revel Score:
ENST00000348749 (MANE Select)
0.938
ENST00000261007
0.938
ENST00000409542
0.938
ENST00000409219
0.938
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174750143C>A , CM000664.2:g.174750143C>A | GRCh38 |
| NC_000002.11:g.175614871C>A , CM000664.1:g.175614871C>A | GRCh37 |
| NC_000002.10:g.175323117C>A | NCBI36 |
| NG_008172.1:g.19330G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636168.2:c.316G>T | ENSP00000490338.2:p.Val106Phe | |
| ENST00000672640.1:c.316G>T | ENSP00000500507.1:p.Val106Phe | |
| ENST00000261007.9:c.880G>T | ENSP00000261007.5:p.Val294Phe | |
| ENST00000348749.9:c.805G>T MANE Select | ENSP00000261008.5:p.Val269Phe | |
| ENST00000409219.5:c.805G>T | ENSP00000386611.1:p.Val269Phe | |
| ENST00000409542.5:c.559G>T | ENSP00000387026.1:p.Val187Phe | |
| ENST00000435083.5:c.*449G>T | ENSP00000395805.1:n.*449G>T | |
| NM_000079.3:c.805G>T | NP_000070.1:p.Val269Phe | |
| NM_001039523.2:c.880G>T | NP_001034612.1:p.Val294Phe | |
| XM_017003256.1:c.901G>T | XP_016858745.1:p.Val301Phe | |
| XM_017003257.1:c.826G>T | XP_016858746.1:p.Val276Phe | |
| NM_000079.4:c.805G>T MANE Select | NP_000070.1:p.Val269Phe | |
| NM_001039523.3:c.880G>T | NP_001034612.1:p.Val294Phe |