Linked Data
ClinVar Variation Id:
2417
dbSNP Id:
rs119451946
ExAC:
1:20975070 C / T
gnomAD v2:
1-20975070-C-T
gnomAD v3:
1-20648577-C-T
gnomAD v4:
1-20648577-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20648577C>T , CM000663.2:g.20648577C>T | GRCh38 |
| NC_000001.10:g.20975070C>T , CM000663.1:g.20975070C>T | GRCh37 |
| NC_000001.9:g.20847657C>T | NCBI36 |
| NG_008164.1:g.20123C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321556.5:c.1196C>T (PINK1) MANE Select | ENSP00000364204.3:p.Pro399Leu | |
| ENST00000321556.4:c.1196C>T (PINK1) | ENSP00000364204.3:p.Pro399Leu | |
| ENST00000400490.2:n.289C>T (PINK1) | ||
| ENST00000492302.1:n.2284C>T (PINK1) | ||
| NM_032409.2:c.1196C>T (PINK1) | NP_115785.1:p.Pro399Leu | |
| NR_046507.1:n.3617G>A (PINK1-AS) | ||
| NM_032409.3:c.1196C>T (PINK1) MANE Select | NP_115785.1:p.Pro399Leu |