Linked Data
dbSNP Id:
rs754643063
ExAC:
22:18900800 C / T
gnomAD v2:
22-18900800-C-T
gnomAD v4:
22-18913287-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18913287C>T , CM000684.2:g.18913287C>T | GRCh38 |
| NC_000022.10:g.18900800C>T , CM000684.1:g.18900800C>T | GRCh37 |
| NC_000022.9:g.17280800C>T | NCBI36 |
| NG_008226.2:g.28267G>A | |
| NG_009052.1:g.12065C>T | |
| NG_008226.3:g.28267G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357068.11:c.1691G>A (PRODH) MANE Select | ENSP00000349577.6:p.Arg564His | |
| ENST00000638240.1:c.513+2259C>T | ENSP00000492446.1:n.513+2259C>T | |
| ENST00000313755.9:n.2456G>A (PRODH) | ||
| ENST00000334029.6:c.1367G>A (PRODH) | ENSP00000334726.2:p.Arg456His | |
| ENST00000357068.10:c.1691G>A (PRODH) | ENSP00000349577.6:p.Arg564His | |
| ENST00000420436.5:c.1367G>A (PRODH) | ENSP00000410805.1:p.Arg456His | |
| ENST00000429300.5:n.2062G>A (PRODH) | ||
| ENST00000482858.5:n.4171G>A (PRODH) | ||
| ENST00000483718.5:c.*1929C>T (DGCR6) | ENSP00000467483.1:n.*1929C>T | |
| ENST00000491604.5:n.2600G>A (PRODH) | ||
| ENST00000610940.4:c.1691G>A (PRODH) | ENSP00000480347.1:p.Arg564His | |
| NM_001195226.1:c.1367G>A (PRODH) | NP_001182155.1:p.Arg456His | |
| NM_016335.4:c.1691G>A (PRODH) | NP_057419.4:p.Arg564His | |
| XM_011530278.1:c.1118G>A (PRODH) | XP_011528580.1:p.Arg373His | |
| XM_011530279.1:c.911G>A (PRODH) | XP_011528581.1:p.Arg304His | |
| XR_937876.1:n.1758G>A (PRODH) | ||
| NM_005675.5:c.*1598C>T (DGCR6) | NP_005666.2:n.*1598C>T | |
| NM_001195226.2:c.1367G>A (PRODH) | NP_001182155.2:p.Arg456His | |
| NM_016335.5:c.1691G>A (PRODH) | NP_057419.5:p.Arg564His | |
| NM_016335.6:c.1691G>A (PRODH) MANE Select | NP_057419.5:p.Arg564His |