Linked Data
ClinVar Variation Id:
142740
ClinVar RCV Id:
RCV000132114
dbSNP Id:
rs587782685
gnomAD v3:
3-36993287-G-A
gnomAD v4:
3-36993287-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993287G>A , CM000665.2:g.36993287G>A | GRCh38 |
| NC_000003.11:g.37034778G>A , CM000665.1:g.37034778G>A | GRCh37 |
| NC_000003.10:g.37009782G>A | NCBI36 |
| NG_007109.2:g.4938G>A , LRG_216:g.4938G>A | |
| NG_008418.1:g.5018C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-261G>A (MLH1) | ENSP00000500979.2:n.-261G>A | |
| NM_014805.3:c.-210C>T (EPM2AIP1) | NP_055620.1:n.-210C>T |