Linked Data
dbSNP Id:
rs768758677
ExAC:
1:20975018 A / G
gnomAD v2:
1-20975018-A-G
gnomAD v4:
1-20648525-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20648525A>G , CM000663.2:g.20648525A>G | GRCh38 |
| NC_000001.10:g.20975018A>G , CM000663.1:g.20975018A>G | GRCh37 |
| NC_000001.9:g.20847605A>G | NCBI36 |
| NG_008164.1:g.20071A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.1144A>G (PINK1) MANE Select | ENSP00000364204.3:p.Ile382Val | |
| ENST00000321556.4:c.1144A>G (PINK1) | ENSP00000364204.3:p.Ile382Val | |
| ENST00000400490.2:n.237A>G (PINK1) | ||
| ENST00000492302.1:n.2232A>G (PINK1) | ||
| NM_032409.2:c.1144A>G (PINK1) | NP_115785.1:p.Ile382Val | |
| NR_046507.1:n.3669T>C (PINK1-AS) | ||
| NM_032409.3:c.1144A>G (PINK1) MANE Select | NP_115785.1:p.Ile382Val |