HGVS | Genome Assembly |
---|---|
NC_000003.12:g.50345793G>C , CM000665.2:g.50345793G>C | GRCh38 |
NC_000003.11:g.50383224G>C , CM000665.1:g.50383224G>C | GRCh37 |
NC_000003.10:g.50358228G>C | NCBI36 |
NG_023270.1:g.144C>G | |
NG_042828.1:g.4954C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000231749.7:c.-214C>G | ENSP00000231749.3:n.-214C>G | |
XM_005265216.2:c.-342C>G | XP_005265273.1:n.-342C>G |