Linked Data
COSMIC:
COSM3803750
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20645556C>A , CM000663.2:g.20645556C>A | GRCh38 |
| NC_000001.10:g.20972049C>A , CM000663.1:g.20972049C>A | GRCh37 |
| NC_000001.9:g.20844636C>A | NCBI36 |
| NG_008164.1:g.17102C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321556.5:c.960-4C>A (PINK1) MANE Select | ENSP00000364204.3:n.960-4C>A | |
| ENST00000321556.4:c.960-4C>A (PINK1) | ENSP00000364204.3:n.960-4C>A | |
| ENST00000400490.2:n.49C>A (PINK1) | ||
| ENST00000492302.1:n.2048-4C>A (PINK1) | ||
| NM_032409.2:c.960-4C>A (PINK1) | NP_115785.1:n.960-4C>A | |
| NR_046507.1:n.3981+29G>T (PINK1-AS) | ||
| NM_032409.3:c.960-4C>A (PINK1) MANE Select | NP_115785.1:n.960-4C>A |