HGVS | Genome Assembly |
---|---|
NC_000003.12:g.185254083C>T , CM000665.2:g.185254083C>T | GRCh38 |
NC_000003.11:g.184971871C>T , CM000665.1:g.184971871C>T | GRCh37 |
NC_000003.10:g.186454565C>T | NCBI36 |
NG_015999.1:g.5016G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000231887.7:c.-61G>A | ENSP00000231887.3:n.-61G>A | |
ENST00000465178.1:n.228-5566G>A | ||
NM_001166415.1:c.-472G>A | NP_001159887.1:n.-472G>A | |
NM_001966.3:c.-61G>A | NP_001957.2:n.-61G>A | |
XM_011512517.1:c.-214-5566G>A | XP_011510819.1:n.-214-5566G>A |