Linked Data
ClinVar Variation Id:
2198940
ClinVar RCV Id:
RCV002633997
dbSNP Id:
rs756133347
ExAC:
22:18901050 G / A
gnomAD v2:
22-18901050-G-A
gnomAD v4:
22-18913537-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18913537G>A , CM000684.2:g.18913537G>A | GRCh38 |
| NC_000022.10:g.18901050G>A , CM000684.1:g.18901050G>A | GRCh37 |
| NC_000022.9:g.17281050G>A | NCBI36 |
| NG_008226.2:g.28017C>T | |
| NG_009052.1:g.12315G>A | |
| NG_008226.3:g.28017C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357068.11:c.1527-11C>T (PRODH) MANE Select | ENSP00000349577.6:n.1527-11C>T | |
| ENST00000638240.1:c.513+2509G>A | ENSP00000492446.1:n.513+2509G>A | |
| ENST00000313755.9:n.2292-11C>T (PRODH) | ||
| ENST00000334029.6:c.1203-11C>T (PRODH) | ENSP00000334726.2:n.1203-11C>T | |
| ENST00000357068.10:c.1527-11C>T (PRODH) | ENSP00000349577.6:n.1527-11C>T | |
| ENST00000420436.5:c.1203-11C>T (PRODH) | ENSP00000410805.1:n.1203-11C>T | |
| ENST00000429300.5:n.1898-11C>T (PRODH) | ||
| ENST00000482858.5:n.4007-11C>T (PRODH) | ||
| ENST00000483718.5:c.*2179G>A (DGCR6) | ENSP00000467483.1:n.*2179G>A | |
| ENST00000491604.5:n.2436-11C>T (PRODH) | ||
| ENST00000610940.4:c.1527-11C>T (PRODH) | ENSP00000480347.1:n.1527-11C>T | |
| NM_001195226.1:c.1203-11C>T (PRODH) | NP_001182155.1:n.1203-11C>T | |
| NM_016335.4:c.1527-11C>T (PRODH) | NP_057419.4:n.1527-11C>T | |
| XM_011530278.1:c.954-11C>T (PRODH) | XP_011528580.1:n.954-11C>T | |
| XM_011530279.1:c.747-11C>T (PRODH) | XP_011528581.1:n.747-11C>T | |
| XR_937876.1:n.1594-11C>T (PRODH) | ||
| NM_005675.5:c.*1848G>A (DGCR6) | NP_005666.2:n.*1848G>A | |
| NM_001195226.2:c.1203-11C>T (PRODH) | NP_001182155.2:n.1203-11C>T | |
| NM_016335.5:c.1527-11C>T (PRODH) | NP_057419.5:n.1527-11C>T | |
| NM_016335.6:c.1527-11C>T (PRODH) MANE Select | NP_057419.5:n.1527-11C>T |