HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47310177C>T , CM000679.2:g.47310177C>T | GRCh38 |
NC_000017.10:g.45387543C>T , CM000679.1:g.45387543C>T | GRCh37 |
NC_000017.9:g.42742542C>T | NCBI36 |
NG_008332.2:g.61336C>T , LRG_481:g.61336C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559488.7:c.2340C>T (ITGB3) MANE Select | ENSP00000452786.2:p.Phe780= | |
ENST00000559488.5:c.2340C>T (ITGB3) | ENSP00000452786.1:p.Phe780= | |
ENST00000560629.1:c.2266+2540C>T | ||
NM_000212.2:c.2340C>T , LRG_481t1:c.2340C>T (ITGB3) | NP_000203.2:p.Phe780= | |
NR_110880.1:n.363-6395G>A (EFCAB13-DT) | ||
NR_110881.1:n.227-6395G>A (EFCAB13-DT) | ||
NM_000212.3:c.2340C>T (ITGB3) MANE Select | NP_000203.2:p.Phe780= |