HGVS | Genome Assembly |
---|---|
NC_000003.12:g.50345795G>A , CM000665.2:g.50345795G>A | GRCh38 |
NC_000003.11:g.50383226G>A , CM000665.1:g.50383226G>A | GRCh37 |
NC_000003.10:g.50358230G>A | NCBI36 |
NG_023270.1:g.142C>T | |
NG_042828.1:g.4952C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000231749.7:c.-216C>T | ENSP00000231749.3:n.-216C>T | |
XM_005265216.2:c.-344C>T | XP_005265273.1:n.-344C>T |