HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122509013C>A , CM000672.2:g.122509013C>A | GRCh38 |
NC_000010.10:g.124268529C>A , CM000672.1:g.124268529C>A | GRCh37 |
NC_000010.9:g.124258519C>A | NCBI36 |
NG_011554.1:g.52489C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.1120+243C>A MANE Select | ENSP00000357980.3:n.1120+243C>A | |
ENST00000648167.1:c.802+243C>A | ENSP00000498033.1:n.802+243C>A | |
ENST00000368984.7:c.1120+243C>A | ENSP00000357980.3:n.1120+243C>A | |
ENST00000420892.1:c.343+243C>A | ENSP00000412676.1:n.343+243C>A | |
NM_002775.4:c.1120+243C>A | NP_002766.1:n.1120+243C>A | |
NM_002775.5:c.1120+243C>A MANE Select | NP_002766.1:n.1120+243C>A |