HGVS | Genome Assembly |
---|---|
NC_000001.11:g.20645486T>C , CM000663.2:g.20645486T>C | GRCh38 |
NC_000001.10:g.20971979T>C , CM000663.1:g.20971979T>C | GRCh37 |
NC_000001.9:g.20844566T>C | NCBI36 |
NG_008164.1:g.17032T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000321556.5:c.960-74T>C (PINK1) MANE Select | ENSP00000364204.3:n.960-74T>C | |
ENST00000321556.4:c.960-74T>C (PINK1) | ENSP00000364204.3:n.960-74T>C | |
ENST00000492302.1:n.2048-74T>C (PINK1) | ||
NM_032409.2:c.960-74T>C (PINK1) | NP_115785.1:n.960-74T>C | |
NR_046507.1:n.3981+99A>G (PINK1-AS) | ||
NM_032409.3:c.960-74T>C (PINK1) MANE Select | NP_115785.1:n.960-74T>C |