HGVS | Genome Assembly |
---|---|
NC_000003.12:g.36993299G>A , CM000665.2:g.36993299G>A | GRCh38 |
NC_000003.11:g.37034790G>A , CM000665.1:g.37034790G>A | GRCh37 |
NC_000003.10:g.37009794G>A | NCBI36 |
NG_007109.2:g.4950G>A , LRG_216:g.4950G>A | |
NG_008418.1:g.5006C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673673.2:c.-249G>A (MLH1) | ENSP00000500979.2:n.-249G>A | |
NM_014805.3:c.-222C>T (EPM2AIP1) | NP_055620.1:n.-222C>T |