gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4089694 (AFR)
Genomes Max Group AF
0.40985463 (AFR)
Exomes Max Group AF
0.37567487 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.51795458G>A , CM000663.2:g.51795458G>A | GRCh38 |
| NC_000001.10:g.52261130G>A , CM000663.1:g.52261130G>A | GRCh37 |
| NC_000001.9:g.52033718G>A | NCBI36 |
| NG_029171.1:g.88480C>T | |
| NG_029171.2:g.88480C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352171.12:c.2605-604C>T (NRDC) MANE Select | ENSP00000262679.8:n.2605-604C>T | |
| ENST00000352171.11:c.2605-604C>T (NRDC) | ENSP00000262679.8:n.2605-604C>T | |
| ENST00000354831.11:c.2809-604C>T (NRDC) | ENSP00000346890.7:n.2809-604C>T | |
| ENST00000440943.5:c.848-604C>T (NRDC) | ||
| ENST00000475310.5:n.251C>T (NRDC) | ||
| ENST00000485608.5:n.2274-604C>T (NRDC) | ||
| ENST00000497358.1:n.530-604C>T (NRDC) | ||
| ENST00000539524.5:c.2413-604C>T (NRDC) | ENSP00000444416.1:n.2413-604C>T | |
| ENST00000544028.5:c.2605-604C>T (NRDC) | ENSP00000442262.2:n.2605-604C>T | |
| ENST00000615102.1:c.2605-604C>T (NRDC) | ENSP00000481902.1:n.2605-604C>T | |
| ENST00000625138.1:c.391-2497G>A (OSBPL9) | ENSP00000485521.1:n.391-2497G>A | |
| NM_001101662.1:c.2605-604C>T (NRDC) | NP_001095132.1:n.2605-604C>T | |
| NM_001242361.1:c.2413-604C>T (NRDC) | NP_001229290.1:n.2413-604C>T | |
| NM_002525.2:c.2809-604C>T (NRDC) | NP_002516.2:n.2809-604C>T | |
| XM_005270903.1:c.1894-604C>T (NRDC) | XP_005270960.1:n.1894-604C>T | |
| XM_011541521.1:c.2713-604C>T (NRDC) | XP_011539823.1:n.2713-604C>T | |
| XM_011541522.1:c.2479-604C>T (NRDC) | XP_011539824.1:n.2479-604C>T | |
| XM_011541523.1:c.2209-604C>T (NRDC) | XP_011539825.1:n.2209-604C>T | |
| XM_011541524.1:c.2809-250C>T (NRDC) | XP_011539826.1:n.2809-250C>T | |
| XM_011541525.1:c.1894-604C>T (NRDC) | XP_011539827.1:n.1894-604C>T | |
| XR_946660.1:n.2795-250C>T (NRDC) | ||
| XR_947342.1:n.85+1384G>A | ||
| XM_011541525.2:c.1894-604C>T (NRDC) | XP_011539827.1:n.1894-604C>T | |
| XM_017001375.1:c.2209-604C>T (NRDC) | XP_016856864.1:n.2209-604C>T | |
| XM_024447364.1:c.2413-604C>T (NRDC) | XP_024303132.1:n.2413-604C>T | |
| XM_024447365.1:c.1894-604C>T (NRDC) | XP_024303133.1:n.1894-604C>T | |
| XR_947342.3:n.118+1384G>A | ||
| NM_001101662.2:c.2605-604C>T (NRDC) MANE Select | NP_001095132.1:n.2605-604C>T | |
| NM_001242361.2:c.2413-604C>T (NRDC) | NP_001229290.1:n.2413-604C>T | |
| NM_002525.3:c.2809-604C>T (NRDC) | NP_002516.2:n.2809-604C>T |