Linked Data
ClinVar Variation Id:
738406
ClinVar RCV Id:
RCV000914289
dbSNP Id:
rs78730670
ExAC:
2:178592395 C / T
gnomAD v2:
2-178592395-C-T
gnomAD v3:
2-177727667-C-T
gnomAD v4:
2-177727667-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.177727667C>T , CM000664.2:g.177727667C>T | GRCh38 |
| NC_000002.11:g.178592395C>T , CM000664.1:g.178592395C>T | GRCh37 |
| NC_000002.10:g.178300641C>T | NCBI36 |
| NG_012168.1:g.385672G>A | |
| NG_012168.2:g.385673G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286063.11:c.2034G>A (PDE11A) MANE Select | ENSP00000286063.5:p.Ala678= | |
| ENST00000286063.10:c.2034G>A (PDE11A) | ENSP00000286063.5:p.Ala678= | |
| ENST00000358450.8:c.1284G>A (PDE11A) | ENSP00000351232.4:p.Ala428= | |
| ENST00000389683.7:c.702G>A (PDE11A) | ENSP00000374333.3:p.Ala234= | |
| ENST00000409504.5:c.960G>A (PDE11A) | ENSP00000386539.1:p.Ala320= | |
| ENST00000433879.1:c.857G>A (PDE11A) | ||
| ENST00000497003.5:n.1076G>A (PDE11A) | ||
| NM_001077196.1:c.702G>A (PDE11A) | NP_001070664.1:p.Ala234= | |
| NM_001077197.1:c.1284G>A (PDE11A) | NP_001070665.1:p.Ala428= | |
| NM_001077358.1:c.960G>A (PDE11A) | NP_001070826.1:p.Ala320= | |
| NM_016953.3:c.2034G>A (PDE11A) | NP_058649.3:p.Ala678= | |
| XM_011512284.1:c.*35-395C>T (PDE11A-AS1) | XP_011510586.1:n.*35-395C>T | |
| NM_016953.4:c.2034G>A (PDE11A) MANE Select | NP_058649.3:p.Ala678= | |
| NM_001077196.2:c.702G>A (PDE11A) | NP_001070664.1:p.Ala234= | |
| NM_001077197.2:c.1284G>A (PDE11A) | NP_001070665.1:p.Ala428= | |
| NM_001077358.2:c.960G>A (PDE11A) | NP_001070826.1:p.Ala320= |