Revel Score:
ENST00000389039 (MANE Select)
0.958
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45108887G>C , CM000677.2:g.45108887G>C | GRCh38 |
| NC_000015.9:g.45401085G>C , CM000677.1:g.45401085G>C | GRCh37 |
| NC_000015.8:g.43188377G>C | NCBI36 |
| NG_009447.1:g.10275C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389039.11:c.1300C>G MANE Select | ENSP00000373691.7:p.Arg434Gly | |
| ENST00000389039.10:c.1300C>G | ENSP00000373691.6:p.Arg434Gly | |
| ENST00000558383.1:n.2465C>G | ||
| ENST00000603300.1:c.1300C>G | ENSP00000475084.1:p.Arg434Gly | |
| NM_014080.4:c.1300C>G | NP_054799.4:p.Arg434Gly | |
| XM_005254421.2:c.1300C>G | XP_005254478.1:p.Arg434Gly | |
| NM_001363711.1:c.1300C>G | NP_001350640.1:p.Arg434Gly | |
| NM_001363711.2:c.1300C>G MANE Select | NP_001350640.1:p.Arg434Gly | |
| NM_014080.5:c.1300C>G | NP_054799.4:p.Arg434Gly |