Linked Data
ClinVar Variation Id:
822334
ClinVar RCV Id:
RCV001017614
dbSNP Id:
rs1249105499
gnomAD v2:
3-37034746-C-T
gnomAD v4:
3-36993255-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993255C>T , CM000665.2:g.36993255C>T | GRCh38 |
| NC_000003.11:g.37034746C>T , CM000665.1:g.37034746C>T | GRCh37 |
| NC_000003.10:g.37009750C>T | NCBI36 |
| NG_007109.2:g.4906C>T , LRG_216:g.4906C>T | |
| NG_008418.1:g.5050G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-293C>T (MLH1) | ENSP00000500979.2:n.-293C>T | |
| NM_014805.3:c.-178G>A (EPM2AIP1) | NP_055620.1:n.-178G>A |