Linked Data
ClinVar Variation Id:
127267
ClinVar RCV Id:
RCV000115064
dbSNP Id:
rs372055
ExAC:
22:18900750 G / A
gnomAD v2:
22-18900750-G-A
gnomAD v3:
22-18913237-G-A
gnomAD v4:
22-18913237-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18913237G>A , CM000684.2:g.18913237G>A | GRCh38 |
| NC_000022.10:g.18900750G>A , CM000684.1:g.18900750G>A | GRCh37 |
| NC_000022.9:g.17280750G>A | NCBI36 |
| NG_008226.2:g.28317C>T | |
| NG_009052.1:g.12015G>A | |
| NG_008226.3:g.28317C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357068.11:c.1741C>T (PRODH) MANE Select | ENSP00000349577.6:p.Leu581= | |
| ENST00000638240.1:c.513+2209G>A | ENSP00000492446.1:n.513+2209G>A | |
| ENST00000313755.9:n.2506C>T (PRODH) | ||
| ENST00000334029.6:c.1417C>T (PRODH) | ENSP00000334726.2:p.Leu473= | |
| ENST00000357068.10:c.1741C>T (PRODH) | ENSP00000349577.6:p.Leu581= | |
| ENST00000420436.5:c.1417C>T (PRODH) | ENSP00000410805.1:p.Leu473= | |
| ENST00000429300.5:n.2112C>T (PRODH) | ||
| ENST00000482858.5:n.4221C>T (PRODH) | ||
| ENST00000483718.5:c.*1879G>A (DGCR6) | ENSP00000467483.1:n.*1879G>A | |
| ENST00000491604.5:n.2650C>T (PRODH) | ||
| ENST00000610940.4:c.1741C>T (PRODH) | ENSP00000480347.1:p.Leu581= | |
| NM_001195226.1:c.1417C>T (PRODH) | NP_001182155.1:p.Leu473= | |
| NM_016335.4:c.1741C>T (PRODH) | NP_057419.4:p.Leu581= | |
| XM_011530278.1:c.1168C>T (PRODH) | XP_011528580.1:p.Leu390= | |
| XM_011530279.1:c.961C>T (PRODH) | XP_011528581.1:p.Leu321= | |
| XR_937876.1:n.1808C>T (PRODH) | ||
| NM_005675.5:c.*1548G>A (DGCR6) | NP_005666.2:n.*1548G>A | |
| NM_001195226.2:c.1417C>T (PRODH) | NP_001182155.2:p.Leu473= | |
| NM_016335.5:c.1741C>T (PRODH) | NP_057419.5:p.Leu581= | |
| NM_016335.6:c.1741C>T (PRODH) MANE Select | NP_057419.5:p.Leu581= |