HGVS | Genome Assembly |
---|---|
NC_000003.12:g.50345800T>G , CM000665.2:g.50345800T>G | GRCh38 |
NC_000003.11:g.50383231T>G , CM000665.1:g.50383231T>G | GRCh37 |
NC_000003.10:g.50358235T>G | NCBI36 |
NG_023270.1:g.137A>C | |
NG_042828.1:g.4947A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000231749.7:c.-221A>C | ENSP00000231749.3:n.-221A>C | |
XM_005265216.2:c.-349A>C | XP_005265273.1:n.-349A>C |