Linked Data
ClinVar Variation Id:
1792366
ClinVar RCV Id:
RCV002434922
dbSNP Id:
rs2080860963
gnomAD v3:
3-36993298-C-A
gnomAD v4:
3-36993298-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993298C>A , CM000665.2:g.36993298C>A | GRCh38 |
| NC_000003.11:g.37034789C>A , CM000665.1:g.37034789C>A | GRCh37 |
| NC_000003.10:g.37009793C>A | NCBI36 |
| NG_007109.2:g.4949C>A , LRG_216:g.4949C>A | |
| NG_008418.1:g.5007G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-250C>A (MLH1) | ENSP00000500979.2:n.-250C>A | |
| NM_014805.3:c.-221G>T (EPM2AIP1) | NP_055620.1:n.-221G>T |