Linked Data
ClinVar Variation Id:
1250767
ClinVar RCV Id:
RCV001655120
dbSNP Id:
rs16943176
gnomAD v2:
17-56769887-G-A
gnomAD v3:
17-58692526-G-A
gnomAD v4:
17-58692526-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58692526G>A , CM000679.2:g.58692526G>A | GRCh38 |
| NC_000017.10:g.56769887G>A , CM000679.1:g.56769887G>A | GRCh37 |
| NC_000017.9:g.54124886G>A | NCBI36 |
| NG_023199.1:g.4925G>A , LRG_314:g.4925G>A | |
| NG_047169.1:g.4554C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_006722001.4:c.-118G>A | XP_006722064.1:n.-118G>A | |
| XM_006722002.4:c.-118G>A | XP_006722065.1:n.-118G>A | |
| XR_934513.3:n.387G>A | ||
| XR_934514.3:n.387G>A |