HGVS | Genome Assembly |
---|---|
NC_000001.11:g.20648432A>G , CM000663.2:g.20648432A>G | GRCh38 |
NC_000001.10:g.20974925A>G , CM000663.1:g.20974925A>G | GRCh37 |
NC_000001.9:g.20847512A>G | NCBI36 |
NG_008164.1:g.19978A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000321556.5:c.1124-73A>G (PINK1) MANE Select | ENSP00000364204.3:n.1124-73A>G | |
ENST00000321556.4:c.1124-73A>G (PINK1) | ENSP00000364204.3:n.1124-73A>G | |
ENST00000400490.2:n.217-73A>G (PINK1) | ||
ENST00000492302.1:n.2212-73A>G (PINK1) | ||
NM_032409.2:c.1124-73A>G (PINK1) | NP_115785.1:n.1124-73A>G | |
NR_046507.1:n.3762T>C (PINK1-AS) | ||
NM_032409.3:c.1124-73A>G (PINK1) MANE Select | NP_115785.1:n.1124-73A>G |