Revel Score:
ENST00000262017
0.952
ENST00000435993
0.952
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47307567T>G , CM000679.2:g.47307567T>G | GRCh38 |
| NC_000017.10:g.45384933T>G , CM000679.1:g.45384933T>G | GRCh37 |
| NC_000017.9:g.42739932T>G | NCBI36 |
| NG_008332.2:g.58726T>G , LRG_481:g.58726T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.2231T>G (ITGB3) | ENSP00000513002.1:p.Leu744Arg | |
| ENST00000559488.7:c.2231T>G (ITGB3) MANE Select | ENSP00000452786.2:p.Leu744Arg | |
| ENST00000559488.5:c.2231T>G (ITGB3) | ENSP00000452786.1:p.Leu744Arg | |
| ENST00000560629.1:c.2196T>G | ||
| NM_000212.2:c.2231T>G , LRG_481t1:c.2231T>G (ITGB3) | NP_000203.2:p.Leu744Arg | |
| NR_110880.1:n.363-3785A>C (EFCAB13-DT) | ||
| NR_110881.1:n.227-3785A>C (EFCAB13-DT) | ||
| NM_000212.3:c.2231T>G (ITGB3) MANE Select | NP_000203.2:p.Leu744Arg |