Linked Data
ClinVar Variation Id:
2416
ClinVar RCV Id:
RCV000002517
dbSNP Id:
rs74315361
PubMed:
PMID:16969854
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20649034T>C , CM000663.2:g.20649034T>C | GRCh38 |
| NC_000001.10:g.20975527T>C , CM000663.1:g.20975527T>C | GRCh37 |
| NC_000001.9:g.20848114T>C | NCBI36 |
| NG_008164.1:g.20580T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321556.5:c.1291T>C (PINK1) MANE Select | ENSP00000364204.3:p.Tyr431His | |
| ENST00000321556.4:c.1291T>C (PINK1) | ENSP00000364204.3:p.Tyr431His | |
| ENST00000400490.2:n.384T>C (PINK1) | ||
| ENST00000492302.1:n.2741T>C (PINK1) | ||
| NM_032409.2:c.1291T>C (PINK1) | NP_115785.1:p.Tyr431His | |
| NR_046507.1:n.3160A>G (PINK1-AS) | ||
| NM_032409.3:c.1291T>C (PINK1) MANE Select | NP_115785.1:p.Tyr431His |