Linked Data
ClinVar Variation Id:
13556
dbSNP Id:
rs121918447
PubMed:
PMID:1438206
ERepo:
CA123230/MONDO:0100326/011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47310169T>C , CM000679.2:g.47310169T>C | GRCh38 |
| NC_000017.10:g.45387535T>C , CM000679.1:g.45387535T>C | GRCh37 |
| NC_000017.9:g.42742534T>C | NCBI36 |
| NG_008332.2:g.61328T>C , LRG_481:g.61328T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559488.7:c.2332T>C (ITGB3) MANE Select | ENSP00000452786.2:p.Ser778Pro | |
| ENST00000559488.5:c.2332T>C (ITGB3) | ENSP00000452786.1:p.Ser778Pro | |
| ENST00000560629.1:c.2266+2532T>C | ||
| NM_000212.2:c.2332T>C , LRG_481t1:c.2332T>C (ITGB3) | NP_000203.2:p.Ser778Pro | |
| NR_110880.1:n.363-6387A>G (EFCAB13-DT) | ||
| NR_110881.1:n.227-6387A>G (EFCAB13-DT) | ||
| NM_000212.3:c.2332T>C (ITGB3) MANE Select | NP_000203.2:p.Ser778Pro |