Linked Data
ClinVar Variation Id:
1760143
ClinVar RCV Id:
RCV002400519
dbSNP Id:
rs145981328
ExAC:
11:128781936 C / T
gnomAD v2:
11-128781936-C-T
gnomAD v4:
11-128912041-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128912041C>T , CM000673.2:g.128912041C>T | GRCh38 |
| NC_000011.9:g.128781936C>T , CM000673.1:g.128781936C>T | GRCh37 |
| NC_000011.8:g.128287146C>T | NCBI36 |
| NG_023406.2:g.25624C>T , LRG_333:g.25624C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.768C>T MANE Select | ENSP00000433295.1:p.Asp256= | |
| ENST00000338350.4:c.768C>T | ENSP00000339960.4:p.Asp256= | |
| ENST00000529694.5:c.768C>T | ENSP00000433295.1:p.Asp256= | |
| ENST00000533599.1:c.768C>T | ENSP00000434266.1:p.Asp256= | |
| NM_000890.3:c.768C>T , LRG_333t1:c.768C>T | NP_000881.3:p.Asp256= | |
| XM_011542809.1:c.768C>T | XP_011541111.1:p.Asp256= | |
| XM_011542810.1:c.768C>T | XP_011541112.1:p.Asp256= | |
| NM_000890.4:c.768C>T | NP_000881.3:p.Asp256= | |
| NM_001354169.1:c.768C>T | NP_001341098.1:p.Asp256= | |
| XM_011542809.2:c.768C>T | XP_011541111.1:p.Asp256= | |
| XM_011542810.3:c.768C>T | XP_011541112.1:p.Asp256= | |
| NM_000890.5:c.768C>T MANE Select | NP_000881.3:p.Asp256= | |
| NM_001354169.2:c.768C>T | NP_001341098.1:p.Asp256= |