Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993277A>C , CM000665.2:g.36993277A>C | GRCh38 |
| NC_000003.11:g.37034768A>C , CM000665.1:g.37034768A>C | GRCh37 |
| NC_000003.10:g.37009772A>C | NCBI36 |
| NG_007109.2:g.4928A>C , LRG_216:g.4928A>C | |
| NG_008418.1:g.5028T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-271A>C (MLH1) | ENSP00000500979.2:n.-271A>C | |
| NM_014805.3:c.-200T>G (EPM2AIP1) | NP_055620.1:n.-200T>G |