Linked Data
ClinVar Variation Id:
376745
ClinVar RCV Id:
RCV000435765
dbSNP Id:
rs1057520042
PubMed:
PMID:9837816
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1222988G>C , CM000681.2:g.1222988G>C | GRCh38 |
| NC_000019.9:g.1222987G>C , CM000681.1:g.1222987G>C | GRCh37 |
| NC_000019.8:g.1173987G>C | NCBI36 |
| NG_007460.2:g.38582G>C , LRG_319:g.38582G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.924G>C | ENSP00000490268.2:p.Trp308Cys | |
| ENST00000585748.3:c.552G>C | ENSP00000477641.2:p.Trp184Cys | |
| ENST00000585851.2:c.750G>C | ENSP00000467912.2:p.Trp250Cys | |
| ENST00000326873.12:c.924G>C MANE Select | ENSP00000324856.6:p.Trp308Cys | |
| ENST00000652231.1:c.924G>C | ENSP00000498804.1:p.Trp308Cys | |
| ENST00000326873.11:c.924G>C | ENSP00000324856.6:p.Trp308Cys | |
| ENST00000586243.5:c.924G>C | ENSP00000467240.2:p.Trp308Cys | |
| ENST00000589152.5:n.1622G>C | ||
| ENST00000591133.2:n.895G>C | ||
| NM_000455.4:c.924G>C , LRG_319t1:c.924G>C | NP_000446.1:p.Trp308Cys | |
| XM_005259617.1:c.924G>C | XP_005259674.1:p.Trp308Cys | |
| XM_005259618.3:c.924G>C | XP_005259675.1:p.Trp308Cys | |
| XM_011528209.1:c.702G>C | XP_011526511.1:p.Trp234Cys | |
| XR_936204.1:n.1700G>C | ||
| XM_005259617.3:c.924G>C | XP_005259674.1:p.Trp308Cys | |
| XM_011528209.2:c.702G>C | XP_011526511.1:p.Trp234Cys | |
| XR_001753738.2:n.1730G>C | ||
| XR_001753739.1:n.1730G>C | ||
| XR_001753740.2:n.1700G>C | ||
| NM_000455.5:c.924G>C MANE Select | NP_000446.1:p.Trp308Cys |