Linked Data
dbSNP Id:
rs888033702
gnomAD v2:
22-18900651-C-G
gnomAD v3:
22-18913138-C-G
gnomAD v4:
22-18913138-C-G
MyVariant Identifiers:
chr22:g.18900651C>G (hg19)
chr22:g.18900651_18900652delinsGG (hg19)
chr22:g.18913138C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18913138C>G , CM000684.2:g.18913138C>G | GRCh38 |
| NC_000022.10:g.18900651C>G , CM000684.1:g.18900651C>G | GRCh37 |
| NC_000022.9:g.17280651C>G | NCBI36 |
| NG_008226.2:g.28416G>C | |
| NG_009052.1:g.11916C>G | |
| NG_008226.3:g.28416G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357068.11:c.*37G>C (PRODH) MANE Select | ENSP00000349577.6:n.*37G>C | |
| ENST00000638240.1:c.513+2110C>G | ENSP00000492446.1:n.513+2110C>G | |
| ENST00000313755.9:n.2605G>C (PRODH) | ||
| ENST00000334029.6:c.*37G>C (PRODH) | ENSP00000334726.2:n.*37G>C | |
| ENST00000357068.10:c.*37G>C (PRODH) | ENSP00000349577.6:n.*37G>C | |
| ENST00000420436.5:c.*37G>C (PRODH) | ENSP00000410805.1:n.*37G>C | |
| ENST00000429300.5:n.2211G>C (PRODH) | ||
| ENST00000482858.5:n.4320G>C (PRODH) | ||
| ENST00000483718.5:c.*1780C>G (DGCR6) | ENSP00000467483.1:n.*1780C>G | |
| ENST00000491604.5:n.2749G>C (PRODH) | ||
| ENST00000610940.4:c.*37G>C (PRODH) | ENSP00000480347.1:n.*37G>C | |
| NM_001195226.1:c.*37G>C (PRODH) | NP_001182155.1:n.*37G>C | |
| NM_016335.4:c.*37G>C (PRODH) | NP_057419.4:n.*37G>C | |
| XM_011530278.1:c.*37G>C (PRODH) | XP_011528580.1:n.*37G>C | |
| XM_011530279.1:c.*37G>C (PRODH) | XP_011528581.1:n.*37G>C | |
| XR_937876.1:n.1907G>C (PRODH) | ||
| NM_005675.5:c.*1449C>G (DGCR6) | NP_005666.2:n.*1449C>G | |
| NM_001195226.2:c.*37G>C (PRODH) | NP_001182155.2:n.*37G>C | |
| NM_016335.5:c.*37G>C (PRODH) | NP_057419.5:n.*37G>C | |
| NM_016335.6:c.*37G>C (PRODH) MANE Select | NP_057419.5:n.*37G>C |