Linked Data
ClinVar Variation Id:
1523182
ClinVar RCV Id:
RCV002038678
dbSNP Id:
rs1346505603
gnomAD v2:
3-169482638-G-A
gnomAD v4:
3-169764850-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.169764850G>A , CM000665.2:g.169764850G>A | GRCh38 |
| NC_000003.11:g.169482638G>A , CM000665.1:g.169482638G>A | GRCh37 |
| NC_000003.10:g.170965332G>A | NCBI36 |
| NG_016363.1:g.5211C>T , LRG_347:g.5211C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_001566.1:n.211C>T , LRG_347t1:n.211C>T |