HGVS | Genome Assembly |
---|---|
NC_000003.12:g.36993298C= , CM000665.2:g.36993298C= | GRCh38 |
NC_000003.11:g.37034789C= , CM000665.1:g.37034789C= | GRCh37 |
NC_000003.10:g.37009793C= | NCBI36 |
NG_007109.2:g.4949C= , LRG_216:g.4949C= | |
NG_008418.1:g.5007G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673673.2:c.-250C= (MLH1) | ENSP00000500979.2:n.-250C= | |
NM_014805.3:c.-221G= (EPM2AIP1) | NP_055620.1:n.-221G= |