HGVS | Genome Assembly |
---|---|
NC_000003.12:g.185254233C>A , CM000665.2:g.185254233C>A | GRCh38 |
NC_000003.11:g.184972021C>A , CM000665.1:g.184972021C>A | GRCh37 |
NC_000003.10:g.186454715C>A | NCBI36 |
NG_015999.1:g.4866G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000465178.1:n.228-5716G>T | ||
XM_011512517.1:c.-214-5716G>T | XP_011510819.1:n.-214-5716G>T |