Linked Data
ClinVar Variation Id:
2411
dbSNP Id:
rs74315358
ExAC:
1:20971042 G / A
gnomAD v2:
1-20971042-G-A
gnomAD v3:
1-20644549-G-A
gnomAD v4:
1-20644549-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20644549G>A , CM000663.2:g.20644549G>A | GRCh38 |
| NC_000001.10:g.20971042G>A , CM000663.1:g.20971042G>A | GRCh37 |
| NC_000001.9:g.20843629G>A | NCBI36 |
| NG_008164.1:g.16095G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321556.5:c.836G>A (PINK1) MANE Select | ENSP00000364204.3:p.Arg279His | |
| ENST00000321556.4:c.836G>A (PINK1) | ENSP00000364204.3:p.Arg279His | |
| ENST00000492302.1:n.1924G>A (PINK1) | ||
| NM_032409.2:c.836G>A (PINK1) | NP_115785.1:p.Arg279His | |
| NR_046507.1:n.3981+1036C>T (PINK1-AS) | ||
| NM_032409.3:c.836G>A (PINK1) MANE Select | NP_115785.1:p.Arg279His |