Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993294A>G , CM000665.2:g.36993294A>G | GRCh38 |
| NC_000003.11:g.37034785A>G , CM000665.1:g.37034785A>G | GRCh37 |
| NC_000003.10:g.37009789A>G | NCBI36 |
| NG_007109.2:g.4945A>G , LRG_216:g.4945A>G | |
| NG_008418.1:g.5011T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-254A>G (MLH1) | ENSP00000500979.2:n.-254A>G | |
| NM_014805.3:c.-217T>C (EPM2AIP1) | NP_055620.1:n.-217T>C |