HGVS | Genome Assembly |
---|---|
NC_000001.11:g.20645649T>C , CM000663.2:g.20645649T>C | GRCh38 |
NC_000001.10:g.20972142T>C , CM000663.1:g.20972142T>C | GRCh37 |
NC_000001.9:g.20844729T>C | NCBI36 |
NG_008164.1:g.17195T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000321556.5:c.1049T>C (PINK1) MANE Select | ENSP00000364204.3:p.Val350Ala | |
ENST00000321556.4:c.1049T>C (PINK1) | ENSP00000364204.3:p.Val350Ala | |
ENST00000400490.2:n.142T>C (PINK1) | ||
ENST00000492302.1:n.2137T>C (PINK1) | ||
NM_032409.2:c.1049T>C (PINK1) | NP_115785.1:p.Val350Ala | |
NR_046507.1:n.3917A>G (PINK1-AS) | ||
NM_032409.3:c.1049T>C (PINK1) MANE Select | NP_115785.1:p.Val350Ala |