Linked Data
ClinVar Variation Id:
2408
dbSNP Id:
rs28940285
ExAC:
1:20972133 T / C
gnomAD v2:
1-20972133-T-C
gnomAD v3:
1-20645640-T-C
gnomAD v4:
1-20645640-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20645640T>C , CM000663.2:g.20645640T>C | GRCh38 |
| NC_000001.10:g.20972133T>C , CM000663.1:g.20972133T>C | GRCh37 |
| NC_000001.9:g.20844720T>C | NCBI36 |
| NG_008164.1:g.17186T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321556.5:c.1040T>C (PINK1) MANE Select | ENSP00000364204.3:p.Leu347Pro | |
| ENST00000321556.4:c.1040T>C (PINK1) | ENSP00000364204.3:p.Leu347Pro | |
| ENST00000400490.2:n.133T>C (PINK1) | ||
| ENST00000492302.1:n.2128T>C (PINK1) | ||
| NM_032409.2:c.1040T>C (PINK1) | NP_115785.1:p.Leu347Pro | |
| NR_046507.1:n.3926A>G (PINK1-AS) | ||
| NM_032409.3:c.1040T>C (PINK1) MANE Select | NP_115785.1:p.Leu347Pro |