Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20645640T>G , CM000663.2:g.20645640T>G | GRCh38 |
| NC_000001.10:g.20972133T>G , CM000663.1:g.20972133T>G | GRCh37 |
| NC_000001.9:g.20844720T>G | NCBI36 |
| NG_008164.1:g.17186T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321556.5:c.1040T>G (PINK1) MANE Select | ENSP00000364204.3:p.Leu347Arg | |
| ENST00000321556.4:c.1040T>G (PINK1) | ENSP00000364204.3:p.Leu347Arg | |
| ENST00000400490.2:n.133T>G (PINK1) | ||
| ENST00000492302.1:n.2128T>G (PINK1) | ||
| NM_032409.2:c.1040T>G (PINK1) | NP_115785.1:p.Leu347Arg | |
| NR_046507.1:n.3926A>C (PINK1-AS) | ||
| NM_032409.3:c.1040T>G (PINK1) MANE Select | NP_115785.1:p.Leu347Arg |