Linked Data
ClinVar Variation Id:
933247
ClinVar RCV Id:
RCV001201421
dbSNP Id:
rs1577384200
gnomAD v4:
3-169764823-G-A
MyVariant Identifiers:
chr3:g.169482611G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.169764823G>A , CM000665.2:g.169764823G>A | GRCh38 |
| NC_000003.11:g.169482611G>A , CM000665.1:g.169482611G>A | GRCh37 |
| NC_000003.10:g.170965305G>A | NCBI36 |
| NG_016363.1:g.5238C>T , LRG_347:g.5238C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_001566.1:n.238C>T , LRG_347t1:n.238C>T |