HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47310115G>C , CM000679.2:g.47310115G>C | GRCh38 |
NC_000017.10:g.45387481G>C , CM000679.1:g.45387481G>C | GRCh37 |
NC_000017.9:g.42742480G>C | NCBI36 |
NG_008332.2:g.61274G>C , LRG_481:g.61274G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559488.7:c.2302-24G>C (ITGB3) MANE Select | ENSP00000452786.2:n.2302-24G>C | |
ENST00000559488.5:c.2302-24G>C (ITGB3) | ENSP00000452786.1:n.2302-24G>C | |
ENST00000560629.1:c.2266+2478G>C | ||
NM_000212.2:c.2302-24G>C , LRG_481t1:c.2302-24G>C (ITGB3) | NP_000203.2:n.2302-24G>C | |
NR_110880.1:n.363-6333C>G (EFCAB13-DT) | ||
NR_110881.1:n.227-6333C>G (EFCAB13-DT) | ||
NM_000212.3:c.2302-24G>C (ITGB3) MANE Select | NP_000203.2:n.2302-24G>C |