Linked Data
ClinVar Variation Id:
1052804
ClinVar RCV Id:
RCV001361057
dbSNP Id:
rs2108183226
MyVariant Identifiers:
chr3:g.169482719C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.169764931C>T , CM000665.2:g.169764931C>T | GRCh38 |
| NC_000003.11:g.169482719C>T , CM000665.1:g.169482719C>T | GRCh37 |
| NC_000003.10:g.170965413C>T | NCBI36 |
| NG_016363.1:g.5130G>A , LRG_347:g.5130G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_001566.1:n.130G>A , LRG_347t1:n.130G>A |