Revel Score:
ENST00000326873 (MANE Select)
0.929
ENST00000405031
0.929
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1220395G>T , CM000681.2:g.1220395G>T | GRCh38 |
| NC_000019.9:g.1220394G>T , CM000681.1:g.1220394G>T | GRCh37 |
| NC_000019.8:g.1171394G>T | NCBI36 |
| NG_007460.2:g.35989G>T , LRG_319:g.35989G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.487G>T | ENSP00000490268.2:p.Gly163Cys | |
| ENST00000585748.3:c.115G>T | ENSP00000477641.2:p.Gly39Cys | |
| ENST00000585851.2:c.313G>T | ENSP00000467912.2:p.Gly105Cys | |
| ENST00000326873.12:c.487G>T MANE Select | ENSP00000324856.6:p.Gly163Cys | |
| ENST00000652231.1:c.487G>T | ENSP00000498804.1:p.Gly163Cys | |
| ENST00000326873.11:c.487G>T | ENSP00000324856.6:p.Gly163Cys | |
| ENST00000585851.1:c.313G>T | ENSP00000467912.1:p.Gly105Cys | |
| ENST00000586243.5:c.487G>T | ENSP00000467240.2:p.Gly163Cys | |
| ENST00000586358.5:n.310G>T | ||
| ENST00000589152.5:n.577G>T | ||
| ENST00000591133.2:n.383G>T | ||
| NM_000455.4:c.487G>T , LRG_319t1:c.487G>T | NP_000446.1:p.Gly163Cys | |
| XM_005259617.1:c.487G>T | XP_005259674.1:p.Gly163Cys | |
| XM_005259618.3:c.487G>T | XP_005259675.1:p.Gly163Cys | |
| XM_011528209.1:c.265G>T | XP_011526511.1:p.Gly89Cys | |
| XR_936204.1:n.1112G>T | ||
| XM_005259617.3:c.487G>T | XP_005259674.1:p.Gly163Cys | |
| XM_011528209.2:c.265G>T | XP_011526511.1:p.Gly89Cys | |
| XR_001753738.2:n.1112G>T | ||
| XR_001753739.1:n.1112G>T | ||
| XR_001753740.2:n.1112G>T | ||
| NM_000455.5:c.487G>T MANE Select | NP_000446.1:p.Gly163Cys |