Linked Data
ClinVar Variation Id:
4012
ClinVar RCV Id:
RCV000004226
dbSNP Id:
rs193919334
PubMed:
PMID:15662599
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18913492G>C , CM000684.2:g.18913492G>C | GRCh38 |
| NC_000022.10:g.18901005G>C , CM000684.1:g.18901005G>C | GRCh37 |
| NC_000022.9:g.17281005G>C | NCBI36 |
| NG_008226.2:g.28062C>G | |
| NG_009052.1:g.12270G>C | |
| NG_008226.3:g.28062C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357068.11:c.1561C>G (PRODH) MANE Select | ENSP00000349577.6:p.Arg521Gly | |
| ENST00000638240.1:c.513+2464G>C | ENSP00000492446.1:n.513+2464G>C | |
| ENST00000313755.9:n.2326C>G (PRODH) | ||
| ENST00000334029.6:c.1237C>G (PRODH) | ENSP00000334726.2:p.Arg413Gly | |
| ENST00000357068.10:c.1561C>G (PRODH) | ENSP00000349577.6:p.Arg521Gly | |
| ENST00000420436.5:c.1237C>G (PRODH) | ENSP00000410805.1:p.Arg413Gly | |
| ENST00000429300.5:n.1932C>G (PRODH) | ||
| ENST00000482858.5:n.4041C>G (PRODH) | ||
| ENST00000483718.5:c.*2134G>C (DGCR6) | ENSP00000467483.1:n.*2134G>C | |
| ENST00000491604.5:n.2470C>G (PRODH) | ||
| ENST00000610940.4:c.1561C>G (PRODH) | ENSP00000480347.1:p.Arg521Gly | |
| NM_001195226.1:c.1237C>G (PRODH) | NP_001182155.1:p.Gln413Glu | |
| NM_016335.4:c.1561C>G (PRODH) | NP_057419.4:p.Gln521Glu | |
| XM_011530278.1:c.988C>G (PRODH) | XP_011528580.1:p.Arg330Gly | |
| XM_011530279.1:c.781C>G (PRODH) | XP_011528581.1:p.Arg261Gly | |
| XR_937876.1:n.1628C>G (PRODH) | ||
| NM_005675.5:c.*1803G>C (DGCR6) | NP_005666.2:n.*1803G>C | |
| NM_001195226.2:c.1237C>G (PRODH) | NP_001182155.2:p.Arg413Gly | |
| NM_016335.5:c.1561C>G (PRODH) | NP_057419.5:p.Arg521Gly | |
| NM_016335.6:c.1561C>G (PRODH) MANE Select | NP_057419.5:p.Arg521Gly |