Linked Data
dbSNP Id:
rs1182279576
gnomAD v2:
17-56769734-G-A
gnomAD v3:
17-58692373-G-A
gnomAD v4:
17-58692373-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58692373G>A , CM000679.2:g.58692373G>A | GRCh38 |
| NC_000017.10:g.56769734G>A , CM000679.1:g.56769734G>A | GRCh37 |
| NC_000017.9:g.54124733G>A | NCBI36 |
| NG_023199.1:g.4772G>A , LRG_314:g.4772G>A | |
| NG_047169.1:g.4707C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_006722001.4:c.-271G>A | XP_006722064.1:n.-271G>A | |
| XM_006722002.4:c.-271G>A | XP_006722065.1:n.-271G>A | |
| XR_934513.3:n.234G>A | ||
| XR_934514.3:n.234G>A |