Linked Data
ClinVar Variation Id:
7458
ClinVar RCV Id:
RCV000007884
dbSNP Id:
rs137853082
PubMed:
PMID:12372054
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1220700G>C , CM000681.2:g.1220700G>C | GRCh38 |
| NC_000019.9:g.1220699G>C , CM000681.1:g.1220699G>C | GRCh37 |
| NC_000019.8:g.1171699G>C | NCBI36 |
| NG_007460.2:g.36294G>C , LRG_319:g.36294G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.717G>C | ENSP00000490268.2:p.Trp239Cys | |
| ENST00000585748.3:c.345G>C | ENSP00000477641.2:p.Trp115Cys | |
| ENST00000585851.2:c.543G>C | ENSP00000467912.2:p.Trp181Cys | |
| ENST00000326873.12:c.717G>C MANE Select | ENSP00000324856.6:p.Trp239Cys | |
| ENST00000652231.1:c.717G>C | ENSP00000498804.1:p.Trp239Cys | |
| ENST00000326873.11:c.717G>C | ENSP00000324856.6:p.Trp239Cys | |
| ENST00000586243.5:c.717G>C | ENSP00000467240.2:p.Trp239Cys | |
| ENST00000586358.5:n.615G>C | ||
| ENST00000589152.5:n.807G>C | ||
| ENST00000591133.2:n.688G>C | ||
| NM_000455.4:c.717G>C , LRG_319t1:c.717G>C | NP_000446.1:p.Trp239Cys | |
| XM_005259617.1:c.717G>C | XP_005259674.1:p.Trp239Cys | |
| XM_005259618.3:c.717G>C | XP_005259675.1:p.Trp239Cys | |
| XM_011528209.1:c.495G>C | XP_011526511.1:p.Trp165Cys | |
| XR_936204.1:n.1342G>C | ||
| XM_005259617.3:c.717G>C | XP_005259674.1:p.Trp239Cys | |
| XM_011528209.2:c.495G>C | XP_011526511.1:p.Trp165Cys | |
| XR_001753738.2:n.1342G>C | ||
| XR_001753739.1:n.1342G>C | ||
| XR_001753740.2:n.1342G>C | ||
| NM_000455.5:c.717G>C MANE Select | NP_000446.1:p.Trp239Cys |