Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993283C>A , CM000665.2:g.36993283C>A | GRCh38 |
| NC_000003.11:g.37034774C>A , CM000665.1:g.37034774C>A | GRCh37 |
| NC_000003.10:g.37009778C>A | NCBI36 |
| NG_007109.2:g.4934C>A , LRG_216:g.4934C>A | |
| NG_008418.1:g.5022G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-265C>A (MLH1) | ENSP00000500979.2:n.-265C>A | |
| NM_014805.3:c.-206G>T (EPM2AIP1) | NP_055620.1:n.-206G>T |