Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47311220T>G , CM000679.2:g.47311220T>G | GRCh38 |
| NC_000017.10:g.45388586T>G , CM000679.1:g.45388586T>G | GRCh37 |
| NC_000017.9:g.42743585T>G | NCBI36 |
| NG_008332.2:g.62379T>G , LRG_481:g.62379T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000212.3:c.*1016T>G (ITGB3) MANE Select | NP_000203.2:n.*1016T>G |
| ENST00000559488.7:c.*1016T>G (ITGB3) MANE Select | ENSP00000452786.2:n.*1016T>G |
| NM_000212.2:c.*1016T>G , LRG_481t1:c.*1016T>G (ITGB3) | NP_000203.2:n.*1016T>G |
| NR_110880.1:n.362+7252A>C (EFCAB13-DT) | |
| NR_110881.1:n.226+7252A>C (EFCAB13-DT) | |
| ENST00000559488.5:c.*1016T>G (ITGB3) | ENSP00000452786.1:n.*1016T>G |
| ENST00000560629.1:c.2266+3583T>G |