Linked Data
ClinVar Variation Id:
821564
ClinVar RCV Id:
RCV001016089
dbSNP Id:
rs112765329
gnomAD v3:
3-36993286-C-A
gnomAD v4:
3-36993286-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993286C>A , CM000665.2:g.36993286C>A | GRCh38 |
| NC_000003.11:g.37034777C>A , CM000665.1:g.37034777C>A | GRCh37 |
| NC_000003.10:g.37009781C>A | NCBI36 |
| NG_007109.2:g.4937C>A , LRG_216:g.4937C>A | |
| NG_008418.1:g.5019G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-262C>A (MLH1) | ENSP00000500979.2:n.-262C>A | |
| NM_014805.3:c.-209G>T (EPM2AIP1) | NP_055620.1:n.-209G>T |