HGVS | Genome Assembly |
---|---|
NC_000001.11:g.20648620G>A , CM000663.2:g.20648620G>A | GRCh38 |
NC_000001.10:g.20975113G>A , CM000663.1:g.20975113G>A | GRCh37 |
NC_000001.9:g.20847700G>A | NCBI36 |
NG_008164.1:g.20166G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000321556.5:c.1239G>A (PINK1) MANE Select | ENSP00000364204.3:p.Leu413= | |
ENST00000321556.4:c.1239G>A (PINK1) | ENSP00000364204.3:p.Leu413= | |
ENST00000400490.2:n.332G>A (PINK1) | ||
ENST00000492302.1:n.2327G>A (PINK1) | ||
NM_032409.2:c.1239G>A (PINK1) | NP_115785.1:p.Leu413= | |
NR_046507.1:n.3574C>T (PINK1-AS) | ||
NM_032409.3:c.1239G>A (PINK1) MANE Select | NP_115785.1:p.Leu413= |