Linked Data
dbSNP Id:
rs2053164489
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20645317T>C , CM000663.2:g.20645317T>C | GRCh38 |
| NC_000001.10:g.20971810T>C , CM000663.1:g.20971810T>C | GRCh37 |
| NC_000001.9:g.20844397T>C | NCBI36 |
| NG_008164.1:g.16863T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.960-243T>C (PINK1) MANE Select | ENSP00000364204.3:n.960-243T>C | |
| ENST00000321556.4:c.960-243T>C (PINK1) | ENSP00000364204.3:n.960-243T>C | |
| ENST00000492302.1:n.2048-243T>C (PINK1) | ||
| NM_032409.2:c.960-243T>C (PINK1) | NP_115785.1:n.960-243T>C | |
| NR_046507.1:n.3981+268A>G (PINK1-AS) | ||
| NM_032409.3:c.960-243T>C (PINK1) MANE Select | NP_115785.1:n.960-243T>C |