Linked Data
ClinVar Variation Id:
957896
ClinVar RCV Id:
RCV001230964
dbSNP Id:
rs1212628582
gnomAD v4:
3-169764967-G-A
MyVariant Identifiers:
chr3:g.169482755G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.169764967G>A , CM000665.2:g.169764967G>A | GRCh38 |
| NC_000003.11:g.169482755G>A , CM000665.1:g.169482755G>A | GRCh37 |
| NC_000003.10:g.170965449G>A | NCBI36 |
| NG_016363.1:g.5094C>T , LRG_347:g.5094C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_001566.1:n.94C>T , LRG_347t1:n.94C>T |