HGVS | Genome Assembly |
---|---|
NC_000003.12:g.36993301A>C , CM000665.2:g.36993301A>C | GRCh38 |
NC_000003.11:g.37034792A>C , CM000665.1:g.37034792A>C | GRCh37 |
NC_000003.10:g.37009796A>C | NCBI36 |
NG_007109.2:g.4952A>C , LRG_216:g.4952A>C | |
NG_008418.1:g.5004T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673673.2:c.-247A>C (MLH1) | ENSP00000500979.2:n.-247A>C | |
NM_014805.3:c.-224T>G (EPM2AIP1) | NP_055620.1:n.-224T>G |