Linked Data
ClinVar Variation Id:
50227
ClinVar RCV Id:
RCV000043480
dbSNP Id:
rs398122372
PubMed:
PMID:18065693
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47307581G>C , CM000679.2:g.47307581G>C | GRCh38 |
| NC_000017.10:g.45384947G>C , CM000679.1:g.45384947G>C | GRCh37 |
| NC_000017.9:g.42739946G>C | NCBI36 |
| NG_008332.2:g.58740G>C , LRG_481:g.58740G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.2245G>C (ITGB3) | ENSP00000513002.1:p.Asp749His | |
| ENST00000559488.7:c.2245G>C (ITGB3) MANE Select | ENSP00000452786.2:p.Asp749His | |
| ENST00000559488.5:c.2245G>C (ITGB3) | ENSP00000452786.1:p.Asp749His | |
| ENST00000560629.1:c.2210G>C | ||
| NM_000212.2:c.2245G>C , LRG_481t1:c.2245G>C (ITGB3) | NP_000203.2:p.Asp749His | |
| NR_110880.1:n.363-3799C>G (EFCAB13-DT) | ||
| NR_110881.1:n.227-3799C>G (EFCAB13-DT) | ||
| NM_000212.3:c.2245G>C (ITGB3) MANE Select | NP_000203.2:p.Asp749His |