Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47307638G>T , CM000679.2:g.47307638G>T | GRCh38 |
| NC_000017.10:g.45385004G>T , CM000679.1:g.45385004G>T | GRCh37 |
| NC_000017.9:g.42740003G>T | NCBI36 |
| NG_008332.2:g.58797G>T , LRG_481:g.58797G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000212.3:c.2301+1G>T (ITGB3) MANE Select | NP_000203.2:n.2301+1G>T |
| ENST00000559488.7:c.2301+1G>T (ITGB3) MANE Select | ENSP00000452786.2:n.2301+1G>T |
| NM_000212.2:c.2301+1G>T , LRG_481t1:c.2301+1G>T (ITGB3) | NP_000203.2:n.2301+1G>T |
| NR_110880.1:n.363-3856C>A (EFCAB13-DT) | |
| NR_110881.1:n.227-3856C>A (EFCAB13-DT) | |
| ENST00000559488.5:c.2301+1G>T (ITGB3) | ENSP00000452786.1:n.2301+1G>T |
| ENST00000560629.1:c.2266+1G>T | |
| ENST00000696963.1:c.2302G>T (ITGB3) | ENSP00000513002.1:p.Val768Leu |