Linked Data
dbSNP Id:
rs767297594
ExAC:
1:20972042 C / CT
gnomAD v2:
1-20972042-C-CT
gnomAD v4:
1-20645549-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20645550dup , CM000663.2:g.20645550dup | GRCh38 |
| NC_000001.10:g.20972043dup , CM000663.1:g.20972043dup | GRCh37 |
| NC_000001.9:g.20844630dup | NCBI36 |
| NG_008164.1:g.17096dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321556.5:c.960-10dup (PINK1) MANE Select | ENSP00000364204.3:n.960-10dup | |
| ENST00000321556.4:c.960-10dup (PINK1) | ENSP00000364204.3:n.960-10dup | |
| ENST00000400490.2:n.43dup (PINK1) | ||
| ENST00000492302.1:n.2048-10dup (PINK1) | ||
| NM_032409.2:c.960-10dup (PINK1) | NP_115785.1:n.960-10dup | |
| NR_046507.1:n.3981+35dup (PINK1-AS) | ||
| NM_032409.3:c.960-10dup (PINK1) MANE Select | NP_115785.1:n.960-10dup |