Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993260A= , CM000665.2:g.36993260A= | GRCh38 |
| NC_000003.11:g.37034751A= , CM000665.1:g.37034751A= | GRCh37 |
| NC_000003.10:g.37009755A= | NCBI36 |
| NG_007109.2:g.4911A= , LRG_216:g.4911A= | |
| NG_008418.1:g.5045T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-288A= (MLH1) | ENSP00000500979.2:n.-288A= | |
| NM_014805.3:c.-183T= (EPM2AIP1) | NP_055620.1:n.-183T= |