HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122508807A= , CM000672.2:g.122508807A= | GRCh38 |
NC_000010.10:g.124268323A= , CM000672.1:g.124268323A= | GRCh37 |
NC_000010.9:g.124258313A= | NCBI36 |
NG_011554.1:g.52283A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.1120+37A= MANE Select | ENSP00000357980.3:n.1120+37A= | |
ENST00000648167.1:c.802+37A= | ENSP00000498033.1:n.802+37A= | |
ENST00000368984.7:c.1120+37A= | ENSP00000357980.3:n.1120+37A= | |
ENST00000420892.1:c.343+37A= | ENSP00000412676.1:n.343+37A= | |
NM_002775.4:c.1120+37A= | NP_002766.1:n.1120+37A= | |
NM_002775.5:c.1120+37A= MANE Select | NP_002766.1:n.1120+37A= |