Linked Data
ClinVar Variation Id:
161817
ClinVar RCV Id:
RCV000149353
dbSNP Id:
rs193920941
COSMIC:
COSM1178727
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35245288C>T , CM000668.2:g.35245288C>T | GRCh38 |
| NC_000006.11:g.35213065C>T , CM000668.1:g.35213065C>T | GRCh37 |
| NC_000006.10:g.35321043C>T | NCBI36 |
| NG_050574.1:g.36242C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274938.8:c.2462C>T (SCUBE3) MANE Select | ENSP00000274938.7:p.Pro821Leu | |
| ENST00000274938.7:c.2462C>T (SCUBE3) | ENSP00000274938.7:p.Pro821Leu | |
| NM_001303136.1:c.2459C>T (SCUBE3) | NP_001290065.1:p.Pro820Leu | |
| NM_152753.3:c.2462C>T (SCUBE3) | NP_689966.2:p.Pro821Leu | |
| XM_005248943.1:c.2510C>T (SCUBE3) | XP_005249000.1:p.Pro837Leu | |
| XM_005248946.2:c.2444C>T (SCUBE3) | XP_005249003.1:p.Pro815Leu | |
| XM_005248947.1:c.2348C>T (SCUBE3) | XP_005249004.1:p.Pro783Leu | |
| XM_005248948.2:c.1076C>T (SCUBE3) | XP_005249005.1:p.Pro359Leu | |
| XM_011514404.1:c.2486C>T (SCUBE3) | XP_011512706.1:p.Pro829Leu | |
| XM_011514405.1:c.2123C>T (SCUBE3) | XP_011512707.1:p.Pro708Leu | |
| XR_926729.1:n.89+78G>A (SCUBE3-AS1) | ||
| XR_926730.1:n.571+78G>A (SCUBE3-AS1) | ||
| XR_926731.1:n.186+78G>A (SCUBE3-AS1) | ||
| XR_926732.1:n.286-858G>A (SCUBE3-AS1) | ||
| XR_926733.1:n.89+78G>A (SCUBE3-AS1) | ||
| XR_926734.1:n.181-858G>A (SCUBE3-AS1) | ||
| XR_926735.1:n.215-858G>A (SCUBE3-AS1) | ||
| XR_926736.1:n.110-858G>A (SCUBE3-AS1) | ||
| XR_926737.1:n.571+78G>A (SCUBE3-AS1) | ||
| XR_926738.1:n.69+637G>A (SCUBE3-AS1) | ||
| XR_926739.1:n.571+78G>A (SCUBE3-AS1) | ||
| XM_011514404.2:c.2486C>T (SCUBE3) | XP_011512706.1:p.Pro829Leu | |
| XR_001744099.1:n.215-858G>A (SCUBE3-AS1) | ||
| XR_001744101.1:n.286-858G>A (SCUBE3-AS1) | ||
| XR_001744102.1:n.173-858G>A (SCUBE3-AS1) | ||
| XR_001744103.1:n.102-858G>A (SCUBE3-AS1) | ||
| NM_152753.4:c.2462C>T (SCUBE3) MANE Select | NP_689966.2:p.Pro821Leu | |
| NM_001303136.2:c.2459C>T (SCUBE3) | NP_001290065.1:p.Pro820Leu |