Linked Data
dbSNP Id:
rs10202748
gnomAD v2:
2-234003117-A-C
gnomAD v3:
2-233138407-A-C
gnomAD v4:
2-233138407-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233138407A>C , CM000664.2:g.233138407A>C | GRCh38 |
| NC_000002.11:g.234003117A>C , CM000664.1:g.234003117A>C | GRCh37 |
| NC_000002.10:g.233711361A>C | NCBI36 |
| NG_033988.1:g.83441A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000445964.6:c.666-1435A>C (INPP5D) MANE Select | ENSP00000405338.2:n.666-1435A>C | |
| ENST00000359570.9:c.663-1435A>C (INPP5D) | ENSP00000352575.7:n.663-1435A>C | |
| ENST00000445964.5:c.666-1435A>C (INPP5D) | ENSP00000405338.2:n.666-1435A>C | |
| ENST00000451407.4:n.779-1435A>C (INPP5D) | ||
| NM_001017915.2:c.666-1435A>C (PDE12) | NP_001017915.1:n.666-1435A>C | |
| NM_005541.4:c.663-1435A>C (PDE12) | NP_005532.2:n.663-1435A>C | |
| XM_011511128.1:c.666-1435A>C (PDE12) | XP_011509430.1:n.666-1435A>C | |
| XM_017004004.1:c.-872-1435A>C (PDE12) | XP_016859493.1:n.-872-1435A>C | |
| NM_001017915.3:c.666-1435A>C (PDE12) MANE Select | NP_001017915.1:n.666-1435A>C | |
| NM_005541.5:c.663-1435A>C (PDE12) | NP_005532.2:n.663-1435A>C |