Linked Data
ClinVar Variation Id:
1798022
ClinVar RCV Id:
RCV002441836
dbSNP Id:
rs1372331061
gnomAD v3:
3-36993254-C-G
gnomAD v4:
3-36993254-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993254C>G , CM000665.2:g.36993254C>G | GRCh38 |
| NC_000003.11:g.37034745C>G , CM000665.1:g.37034745C>G | GRCh37 |
| NC_000003.10:g.37009749C>G | NCBI36 |
| NG_007109.2:g.4905C>G , LRG_216:g.4905C>G | |
| NG_008418.1:g.5051G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-294C>G (MLH1) | ENSP00000500979.2:n.-294C>G | |
| NM_014805.3:c.-177G>C (EPM2AIP1) | NP_055620.1:n.-177G>C |