HGVS | Genome Assembly |
---|---|
NC_000003.12:g.50345792C>G , CM000665.2:g.50345792C>G | GRCh38 |
NC_000003.11:g.50383223C>G , CM000665.1:g.50383223C>G | GRCh37 |
NC_000003.10:g.50358227C>G | NCBI36 |
NG_023270.1:g.145G>C | |
NG_042828.1:g.4955G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000231749.7:c.-213G>C | ENSP00000231749.3:n.-213G>C | |
XM_005265216.2:c.-341G>C | XP_005265273.1:n.-341G>C |