Revel Score:
ENST00000361727 (MANE Select)
0.508
ENST00000455301
0.508
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147639254C>G , CM000669.2:g.147639254C>G | GRCh38 |
| NC_000007.13:g.147336346C>G , CM000669.1:g.147336346C>G | GRCh37 |
| NC_000007.12:g.146967279C>G | NCBI36 |
| NG_007092.2:g.1527894C>G | |
| NG_007092.3:g.1528254C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.2046C>G MANE Select | ENSP00000354778.3:p.Cys682Trp | |
| ENST00000636870.1:n.1908C>G | ||
| ENST00000637825.1:n.1529C>G | ||
| ENST00000638117.1:n.1949C>G | ||
| ENST00000361727.7:c.2046C>G | ENSP00000354778.3:p.Cys682Trp | |
| ENST00000627772.2:n.219C>G | ||
| NM_014141.5:c.2046C>G | NP_054860.1:p.Cys682Trp | |
| XM_006715919.1:c.534C>G | XP_006715982.1:p.Cys178Trp | |
| XM_017011950.2:c.2046C>G | XP_016867439.1:p.Cys682Trp | |
| NM_014141.6:c.2046C>G MANE Select | NP_054860.1:p.Cys682Trp |