HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47310195G>T , CM000679.2:g.47310195G>T | GRCh38 |
NC_000017.10:g.45387561G>T , CM000679.1:g.45387561G>T | GRCh37 |
NC_000017.9:g.42742560G>T | NCBI36 |
NG_008332.2:g.61354G>T , LRG_481:g.61354G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559488.7:c.2358G>T (ITGB3) MANE Select | ENSP00000452786.2:p.Arg786= | |
ENST00000559488.5:c.2358G>T (ITGB3) | ENSP00000452786.1:p.Arg786= | |
ENST00000560629.1:c.2266+2558G>T | ||
NM_000212.2:c.2358G>T , LRG_481t1:c.2358G>T (ITGB3) | NP_000203.2:p.Arg786= | |
NR_110880.1:n.363-6413C>A (EFCAB13-DT) | ||
NR_110881.1:n.227-6413C>A (EFCAB13-DT) | ||
NM_000212.3:c.2358G>T (ITGB3) MANE Select | NP_000203.2:p.Arg786= |