Linked Data
gnomAD v4:
1-20648435-A-G
COSMIC:
COSN5737058
MyVariant Identifiers:
chr1:g.20974928A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20648435A>G , CM000663.2:g.20648435A>G | GRCh38 |
| NC_000001.10:g.20974928A>G , CM000663.1:g.20974928A>G | GRCh37 |
| NC_000001.9:g.20847515A>G | NCBI36 |
| NG_008164.1:g.19981A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.1124-70A>G (PINK1) MANE Select | ENSP00000364204.3:n.1124-70A>G | |
| ENST00000321556.4:c.1124-70A>G (PINK1) | ENSP00000364204.3:n.1124-70A>G | |
| ENST00000400490.2:n.217-70A>G (PINK1) | ||
| ENST00000492302.1:n.2212-70A>G (PINK1) | ||
| NM_032409.2:c.1124-70A>G (PINK1) | NP_115785.1:n.1124-70A>G | |
| NR_046507.1:n.3759T>C (PINK1-AS) | ||
| NM_032409.3:c.1124-70A>G (PINK1) MANE Select | NP_115785.1:n.1124-70A>G |