Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993291T= , CM000665.2:g.36993291T= | GRCh38 |
| NC_000003.11:g.37034782T= , CM000665.1:g.37034782T= | GRCh37 |
| NC_000003.10:g.37009786T= | NCBI36 |
| NG_007109.2:g.4942T= , LRG_216:g.4942T= | |
| NG_008418.1:g.5014A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-257T= (MLH1) | ENSP00000500979.2:n.-257T= | |
| NM_014805.3:c.-214A= (EPM2AIP1) | NP_055620.1:n.-214A= |