Linked Data
ClinVar Variation Id:
821517
ClinVar RCV Id:
RCV001016006
dbSNP Id:
rs1439880824
gnomAD v3:
3-36993291-T-G
gnomAD v4:
3-36993291-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993291T>G , CM000665.2:g.36993291T>G | GRCh38 |
| NC_000003.11:g.37034782T>G , CM000665.1:g.37034782T>G | GRCh37 |
| NC_000003.10:g.37009786T>G | NCBI36 |
| NG_007109.2:g.4942T>G , LRG_216:g.4942T>G | |
| NG_008418.1:g.5014A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-257T>G (MLH1) | ENSP00000500979.2:n.-257T>G | |
| NM_014805.3:c.-214A>C (EPM2AIP1) | NP_055620.1:n.-214A>C |