Linked Data
ClinVar Variation Id:
821909
ClinVar RCV Id:
RCV001016802
dbSNP Id:
rs876659532
gnomAD v4:
3-36993263-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993263G>A , CM000665.2:g.36993263G>A | GRCh38 |
| NC_000003.11:g.37034754G>A , CM000665.1:g.37034754G>A | GRCh37 |
| NC_000003.10:g.37009758G>A | NCBI36 |
| NG_007109.2:g.4914G>A , LRG_216:g.4914G>A | |
| NG_008418.1:g.5042C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-285G>A (MLH1) | ENSP00000500979.2:n.-285G>A | |
| NM_014805.3:c.-186C>T (EPM2AIP1) | NP_055620.1:n.-186C>T |