gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.9783641G>A , CM000666.2:g.9783641G>A | GRCh38 |
| NC_000004.11:g.9785265G>A , CM000666.1:g.9785265G>A | GRCh37 |
| NC_000004.10:g.9394363G>A | NCBI36 |
| NG_012024.1:g.7008G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304374.4:c.*178G>A (DRD5) MANE Select | ENSP00000306129.2:n.*178G>A | |
| ENST00000304374.3:c.*178G>A (DRD5) | ENSP00000306129.2:n.*178G>A | |
| ENST00000503803.5:n.386-3576C>T (SLC2A9) | ||
| ENST00000508585.5:n.182-12272C>T (SLC2A9) | ||
| NM_000798.4:c.*178G>A (DRD5) | NP_000789.1:n.*178G>A | |
| XM_006713968.2:c.1601-3576C>T (SLC2A9) | XP_006714031.1:n.1601-3576C>T | |
| XM_011513856.1:c.1420-3576C>T (SLC2A9) | XP_011512158.1:n.1420-3576C>T | |
| XM_011513857.1:c.1333-3576C>T (SLC2A9) | XP_011512159.1:n.1333-3576C>T | |
| XM_011513858.1:c.1333-3576C>T (SLC2A9) | XP_011512160.1:n.1333-3576C>T | |
| XM_011513862.1:c.1024-3576C>T (SLC2A9) | XP_011512164.1:n.1024-3576C>T | |
| XM_011513863.1:c.1024-3576C>T (SLC2A9) | XP_011512165.1:n.1024-3576C>T | |
| XM_011513864.1:c.1012-3576C>T (SLC2A9) | XP_011512166.1:n.1012-3576C>T | |
| XM_011513867.1:c.862-3576C>T (SLC2A9) | XP_011512169.1:n.862-3576C>T | |
| XR_925341.1:n.1697-3576C>T (SLC2A9) | ||
| XM_006713968.4:c.1601-3576C>T (SLC2A9) | XP_006714031.1:n.1601-3576C>T | |
| XM_011513856.3:c.1420-3576C>T (SLC2A9) | XP_011512158.1:n.1420-3576C>T | |
| XM_011513862.3:c.1024-3576C>T (SLC2A9) | XP_011512164.1:n.1024-3576C>T | |
| XM_011513864.2:c.1012-3576C>T (SLC2A9) | XP_011512166.1:n.1012-3576C>T | |
| XM_011513867.3:c.862-3576C>T (SLC2A9) | XP_011512169.1:n.862-3576C>T | |
| XM_017008457.2:c.1601-12272C>T (SLC2A9) | XP_016863946.1:n.1601-12272C>T | |
| XM_017008459.1:c.958-3576C>T (SLC2A9) | XP_016863948.1:n.958-3576C>T | |
| XM_024454151.1:c.1033-3576C>T (SLC2A9) | XP_024309919.1:n.1033-3576C>T | |
| XR_925341.3:n.1778-3576C>T (SLC2A9) | ||
| NM_000798.5:c.*178G>A (DRD5) MANE Select | NP_000789.1:n.*178G>A |