Linked Data
dbSNP Id:
rs12987960
gnomAD v2:
2-234107954-A-G
gnomAD v3:
2-233199308-A-G
gnomAD v4:
2-233199308-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233199308A>G , CM000664.2:g.233199308A>G | GRCh38 |
| NC_000002.11:g.234107954A>G , CM000664.1:g.234107954A>G | GRCh37 |
| NC_000002.10:g.233772693A>G | NCBI36 |
| NG_033988.1:g.144342A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000445964.6:c.2975+932A>G (INPP5D) MANE Select | ENSP00000405338.2:n.2975+932A>G | |
| ENST00000359570.9:c.2972+932A>G (INPP5D) | ENSP00000352575.7:n.2972+932A>G | |
| ENST00000415617.5:c.1838+932A>G (INPP5D) | ENSP00000397421.1:n.1838+932A>G | |
| ENST00000417661.1:c.341+932A>G (INPP5D) | ENSP00000414835.1:n.341+932A>G | |
| ENST00000445964.5:c.2975+932A>G (INPP5D) | ENSP00000405338.2:n.2975+932A>G | |
| NM_001017915.2:c.2975+932A>G (PDE12) | NP_001017915.1:n.2975+932A>G | |
| NM_005541.4:c.2972+932A>G (PDE12) | NP_005532.2:n.2972+932A>G | |
| XM_011511128.1:c.2975+932A>G (PDE12) | XP_011509430.1:n.2975+932A>G | |
| XM_011511129.1:c.2195+932A>G (PDE12) | XP_011509431.1:n.2195+932A>G | |
| XM_017004004.1:c.1391+932A>G (PDE12) | XP_016859493.1:n.1391+932A>G | |
| NM_001017915.3:c.2975+932A>G (PDE12) MANE Select | NP_001017915.1:n.2975+932A>G | |
| NM_005541.5:c.2972+932A>G (PDE12) | NP_005532.2:n.2972+932A>G |