HGVS | Genome Assembly |
---|---|
NC_000003.12:g.50345797G>C , CM000665.2:g.50345797G>C | GRCh38 |
NC_000003.11:g.50383228G>C , CM000665.1:g.50383228G>C | GRCh37 |
NC_000003.10:g.50358232G>C | NCBI36 |
NG_023270.1:g.140C>G | |
NG_042828.1:g.4950C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000231749.7:c.-218C>G | ENSP00000231749.3:n.-218C>G | |
XM_005265216.2:c.-346C>G | XP_005265273.1:n.-346C>G |