HGVS | Genome Assembly |
---|---|
NC_000003.12:g.36993273G>T , CM000665.2:g.36993273G>T | GRCh38 |
NC_000003.11:g.37034764G>T , CM000665.1:g.37034764G>T | GRCh37 |
NC_000003.10:g.37009768G>T | NCBI36 |
NG_007109.2:g.4924G>T , LRG_216:g.4924G>T | |
NG_008418.1:g.5032C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673673.2:c.-275G>T (MLH1) | ENSP00000500979.2:n.-275G>T | |
NM_014805.3:c.-196C>A (EPM2AIP1) | NP_055620.1:n.-196C>A |