Linked Data
dbSNP Id:
rs201708636
ExAC:
22:18900646 G / A
gnomAD v2:
22-18900646-G-A
gnomAD v4:
22-18913133-G-A
COSMIC:
COSN24400791
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18913133G>A , CM000684.2:g.18913133G>A | GRCh38 |
| NC_000022.10:g.18900646G>A , CM000684.1:g.18900646G>A | GRCh37 |
| NC_000022.9:g.17280646G>A | NCBI36 |
| NG_008226.2:g.28421C>T | |
| NG_009052.1:g.11911G>A | |
| NG_008226.3:g.28421C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357068.11:c.*42C>T (PRODH) MANE Select | ENSP00000349577.6:n.*42C>T | |
| ENST00000638240.1:c.513+2105G>A | ENSP00000492446.1:n.513+2105G>A | |
| ENST00000313755.9:n.2610C>T (PRODH) | ||
| ENST00000334029.6:c.*42C>T (PRODH) | ENSP00000334726.2:n.*42C>T | |
| ENST00000357068.10:c.*42C>T (PRODH) | ENSP00000349577.6:n.*42C>T | |
| ENST00000420436.5:c.*42C>T (PRODH) | ENSP00000410805.1:n.*42C>T | |
| ENST00000429300.5:n.2216C>T (PRODH) | ||
| ENST00000482858.5:n.4325C>T (PRODH) | ||
| ENST00000483718.5:c.*1775G>A (DGCR6) | ENSP00000467483.1:n.*1775G>A | |
| ENST00000491604.5:n.2754C>T (PRODH) | ||
| ENST00000610940.4:c.*42C>T (PRODH) | ENSP00000480347.1:n.*42C>T | |
| NM_001195226.1:c.*42C>T (PRODH) | NP_001182155.1:n.*42C>T | |
| NM_016335.4:c.*42C>T (PRODH) | NP_057419.4:n.*42C>T | |
| XM_011530278.1:c.*42C>T (PRODH) | XP_011528580.1:n.*42C>T | |
| XM_011530279.1:c.*42C>T (PRODH) | XP_011528581.1:n.*42C>T | |
| XR_937876.1:n.1912C>T (PRODH) | ||
| NM_005675.5:c.*1444G>A (DGCR6) | NP_005666.2:n.*1444G>A | |
| NM_001195226.2:c.*42C>T (PRODH) | NP_001182155.2:n.*42C>T | |
| NM_016335.5:c.*42C>T (PRODH) | NP_057419.5:n.*42C>T | |
| NM_016335.6:c.*42C>T (PRODH) MANE Select | NP_057419.5:n.*42C>T |