Linked Data
dbSNP Id:
rs773187485
ExAC:
22:18900737 T / C
gnomAD v3:
22-18913224-T-C
gnomAD v4:
22-18913224-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18913224T>C , CM000684.2:g.18913224T>C | GRCh38 |
| NC_000022.10:g.18900737T>C , CM000684.1:g.18900737T>C | GRCh37 |
| NC_000022.9:g.17280737T>C | NCBI36 |
| NG_008226.2:g.28330A>G | |
| NG_009052.1:g.12002T>C | |
| NG_008226.3:g.28330A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357068.11:c.1754A>G (PRODH) MANE Select | ENSP00000349577.6:p.Glu585Gly | |
| ENST00000638240.1:c.513+2196T>C | ENSP00000492446.1:n.513+2196T>C | |
| ENST00000313755.9:n.2519A>G (PRODH) | ||
| ENST00000334029.6:c.1430A>G (PRODH) | ENSP00000334726.2:p.Glu477Gly | |
| ENST00000357068.10:c.1754A>G (PRODH) | ENSP00000349577.6:p.Glu585Gly | |
| ENST00000420436.5:c.1430A>G (PRODH) | ENSP00000410805.1:p.Glu477Gly | |
| ENST00000429300.5:n.2125A>G (PRODH) | ||
| ENST00000482858.5:n.4234A>G (PRODH) | ||
| ENST00000483718.5:c.*1866T>C (DGCR6) | ENSP00000467483.1:n.*1866T>C | |
| ENST00000491604.5:n.2663A>G (PRODH) | ||
| ENST00000610940.4:c.1754A>G (PRODH) | ENSP00000480347.1:p.Glu585Gly | |
| NM_001195226.1:c.1430A>G (PRODH) | NP_001182155.1:p.Glu477Gly | |
| NM_016335.4:c.1754A>G (PRODH) | NP_057419.4:p.Glu585Gly | |
| XM_011530278.1:c.1181A>G (PRODH) | XP_011528580.1:p.Glu394Gly | |
| XM_011530279.1:c.974A>G (PRODH) | XP_011528581.1:p.Glu325Gly | |
| XR_937876.1:n.1821A>G (PRODH) | ||
| NM_005675.5:c.*1535T>C (DGCR6) | NP_005666.2:n.*1535T>C | |
| NM_001195226.2:c.1430A>G (PRODH) | NP_001182155.2:p.Glu477Gly | |
| NM_016335.5:c.1754A>G (PRODH) | NP_057419.5:p.Glu585Gly | |
| NM_016335.6:c.1754A>G (PRODH) MANE Select | NP_057419.5:p.Glu585Gly |