Linked Data
ClinVar Variation Id:
822494
ClinVar RCV Id:
RCV001017893
dbSNP Id:
rs1575372838
gnomAD v4:
3-36993249-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993249G>A , CM000665.2:g.36993249G>A | GRCh38 |
| NC_000003.11:g.37034740G>A , CM000665.1:g.37034740G>A | GRCh37 |
| NC_000003.10:g.37009744G>A | NCBI36 |
| NG_007109.2:g.4900G>A , LRG_216:g.4900G>A | |
| NG_008418.1:g.5056C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-299G>A (MLH1) | ENSP00000500979.2:n.-299G>A | |
| NM_014805.3:c.-172C>T (EPM2AIP1) | NP_055620.1:n.-172C>T |