Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993248C>G , CM000665.2:g.36993248C>G | GRCh38 |
| NC_000003.11:g.37034739C>G , CM000665.1:g.37034739C>G | GRCh37 |
| NC_000003.10:g.37009743C>G | NCBI36 |
| NG_007109.2:g.4899C>G , LRG_216:g.4899C>G | |
| NG_008418.1:g.5057G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-300C>G (MLH1) | ENSP00000500979.2:n.-300C>G | |
| NM_014805.3:c.-171G>C (EPM2AIP1) | NP_055620.1:n.-171G>C |