Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20645573C>A , CM000663.2:g.20645573C>A | GRCh38 |
| NC_000001.10:g.20972066C>A , CM000663.1:g.20972066C>A | GRCh37 |
| NC_000001.9:g.20844653C>A | NCBI36 |
| NG_008164.1:g.17119C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.973C>A (PINK1) MANE Select | ENSP00000364204.3:p.Leu325Met | |
| ENST00000321556.4:c.973C>A (PINK1) | ENSP00000364204.3:p.Leu325Met | |
| ENST00000400490.2:n.66C>A (PINK1) | ||
| ENST00000492302.1:n.2061C>A (PINK1) | ||
| NM_032409.2:c.973C>A (PINK1) | NP_115785.1:p.Leu325Met | |
| NR_046507.1:n.3981+12G>T (PINK1-AS) | ||
| NM_032409.3:c.973C>A (PINK1) MANE Select | NP_115785.1:p.Leu325Met |