HGVS | Genome Assembly |
---|---|
NC_000001.11:g.20645643A>T , CM000663.2:g.20645643A>T | GRCh38 |
NC_000001.10:g.20972136A>T , CM000663.1:g.20972136A>T | GRCh37 |
NC_000001.9:g.20844723A>T | NCBI36 |
NG_008164.1:g.17189A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000321556.5:c.1043A>T (PINK1) MANE Select | ENSP00000364204.3:p.Glu348Val | |
ENST00000321556.4:c.1043A>T (PINK1) | ENSP00000364204.3:p.Glu348Val | |
ENST00000400490.2:n.136A>T (PINK1) | ||
ENST00000492302.1:n.2131A>T (PINK1) | ||
NM_032409.2:c.1043A>T (PINK1) | NP_115785.1:p.Glu348Val | |
NR_046507.1:n.3923T>A (PINK1-AS) | ||
NM_032409.3:c.1043A>T (PINK1) MANE Select | NP_115785.1:p.Glu348Val |