HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122506887T>G , CM000672.2:g.122506887T>G | GRCh38 |
NC_000010.10:g.124266403T>G , CM000672.1:g.124266403T>G | GRCh37 |
NC_000010.9:g.124256393T>G | NCBI36 |
NG_011554.1:g.50363T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000368984.8:c.972+2T>G MANE Select | ENSP00000357980.3:n.972+2T>G | |
ENST00000648167.1:c.654+2T>G | ENSP00000498033.1:n.654+2T>G | |
ENST00000368984.7:c.972+2T>G | ENSP00000357980.3:n.972+2T>G | |
ENST00000420892.1:c.195+2T>G | ENSP00000412676.1:n.195+2T>G | |
NM_002775.4:c.972+2T>G | NP_002766.1:n.972+2T>G | |
NM_002775.5:c.972+2T>G MANE Select | NP_002766.1:n.972+2T>G |