HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122506849A>T , CM000672.2:g.122506849A>T | GRCh38 |
NC_000010.10:g.124266365A>T , CM000672.1:g.124266365A>T | GRCh37 |
NC_000010.9:g.124256355A>T | NCBI36 |
NG_011554.1:g.50325A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.936A>T MANE Select | ENSP00000357980.3:p.Ser312= | |
ENST00000648167.1:c.618A>T | ENSP00000498033.1:p.Ser206= | |
ENST00000368984.7:c.936A>T | ENSP00000357980.3:p.Ser312= | |
ENST00000420892.1:c.159A>T | ENSP00000412676.1:p.Ser53= | |
NM_002775.4:c.936A>T | NP_002766.1:p.Ser312= | |
NM_002775.5:c.936A>T MANE Select | NP_002766.1:p.Ser312= |