Linked Data
dbSNP Id:
rs35349669
gnomAD v2:
2-234068476-C-T
gnomAD v3:
2-233159830-C-T
gnomAD v4:
2-233159830-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233159830C>T , CM000664.2:g.233159830C>T | GRCh38 |
| NC_000002.11:g.234068476C>T , CM000664.1:g.234068476C>T | GRCh37 |
| NC_000002.10:g.233732526C>T | NCBI36 |
| NG_033988.1:g.104864C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000445964.6:c.1137+1411C>T (INPP5D) MANE Select | ENSP00000405338.2:n.1137+1411C>T | |
| ENST00000359570.9:c.1134+1411C>T (INPP5D) | ENSP00000352575.7:n.1134+1411C>T | |
| ENST00000445964.5:c.1137+1411C>T (INPP5D) | ENSP00000405338.2:n.1137+1411C>T | |
| NM_001017915.2:c.1137+1411C>T (PDE12) | NP_001017915.1:n.1137+1411C>T | |
| NM_005541.4:c.1134+1411C>T (PDE12) | NP_005532.2:n.1134+1411C>T | |
| XM_011511128.1:c.1137+1411C>T (PDE12) | XP_011509430.1:n.1137+1411C>T | |
| XM_011511129.1:c.357+1411C>T (PDE12) | XP_011509431.1:n.357+1411C>T | |
| XM_017004004.1:c.-401+1411C>T (PDE12) | XP_016859493.1:n.-401+1411C>T | |
| NM_001017915.3:c.1137+1411C>T (PDE12) MANE Select | NP_001017915.1:n.1137+1411C>T | |
| NM_005541.5:c.1134+1411C>T (PDE12) | NP_005532.2:n.1134+1411C>T |