HGVS | Genome Assembly |
---|---|
NC_000003.12:g.36993281G>A , CM000665.2:g.36993281G>A | GRCh38 |
NC_000003.11:g.37034772G>A , CM000665.1:g.37034772G>A | GRCh37 |
NC_000003.10:g.37009776G>A | NCBI36 |
NG_007109.2:g.4932G>A , LRG_216:g.4932G>A | |
NG_008418.1:g.5024C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673673.2:c.-267G>A (MLH1) | ENSP00000500979.2:n.-267G>A | |
NM_014805.3:c.-204C>T (EPM2AIP1) | NP_055620.1:n.-204C>T |