Linked Data
dbSNP Id:
rs764648391
ExAC:
1:20972141 G / C
gnomAD v2:
1-20972141-G-C
gnomAD v4:
1-20645648-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20645648G>C , CM000663.2:g.20645648G>C | GRCh38 |
| NC_000001.10:g.20972141G>C , CM000663.1:g.20972141G>C | GRCh37 |
| NC_000001.9:g.20844728G>C | NCBI36 |
| NG_008164.1:g.17194G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321556.5:c.1048G>C (PINK1) MANE Select | ENSP00000364204.3:p.Val350Leu | |
| ENST00000321556.4:c.1048G>C (PINK1) | ENSP00000364204.3:p.Val350Leu | |
| ENST00000400490.2:n.141G>C (PINK1) | ||
| ENST00000492302.1:n.2136G>C (PINK1) | ||
| NM_032409.2:c.1048G>C (PINK1) | NP_115785.1:p.Val350Leu | |
| NR_046507.1:n.3918C>G (PINK1-AS) | ||
| NM_032409.3:c.1048G>C (PINK1) MANE Select | NP_115785.1:p.Val350Leu |