Linked Data
MyVariant Identifiers:
chr17:g.45387569A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47310203A>G , CM000679.2:g.47310203A>G | GRCh38 |
| NC_000017.10:g.45387569A>G , CM000679.1:g.45387569A>G | GRCh37 |
| NC_000017.9:g.42742568A>G | NCBI36 |
| NG_008332.2:g.61362A>G , LRG_481:g.61362A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559488.7:c.2366A>G (ITGB3) MANE Select | ENSP00000452786.2:p.Ter789= | |
| ENST00000559488.5:c.2366A>G (ITGB3) | ENSP00000452786.1:p.Ter789= | |
| ENST00000560629.1:c.2266+2566A>G | ||
| NM_000212.2:c.2366A>G , LRG_481t1:c.2366A>G (ITGB3) | NP_000203.2:p.Ter789= | |
| NR_110880.1:n.363-6421T>C (EFCAB13-DT) | ||
| NR_110881.1:n.227-6421T>C (EFCAB13-DT) | ||
| NM_000212.3:c.2366A>G (ITGB3) MANE Select | NP_000203.2:p.Ter789= |