Linked Data
ClinVar Variation Id:
2733230
ClinVar RCV Id:
RCV003506505
dbSNP Id:
rs2108183093
gnomAD v4:
3-169764843-G-A
MyVariant Identifiers:
chr3:g.169482631G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.169764843G>A , CM000665.2:g.169764843G>A | GRCh38 |
| NC_000003.11:g.169482631G>A , CM000665.1:g.169482631G>A | GRCh37 |
| NC_000003.10:g.170965325G>A | NCBI36 |
| NG_016363.1:g.5218C>T , LRG_347:g.5218C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_001566.1:n.218C>T , LRG_347t1:n.218C>T |