HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122506810C>A , CM000672.2:g.122506810C>A | GRCh38 |
NC_000010.10:g.124266326C>A , CM000672.1:g.124266326C>A | GRCh37 |
NC_000010.9:g.124256316C>A | NCBI36 |
NG_011554.1:g.50286C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.897C>A MANE Select | ENSP00000357980.3:p.Thr299= | |
ENST00000648167.1:c.579C>A | ENSP00000498033.1:p.Thr193= | |
ENST00000368984.7:c.897C>A | ENSP00000357980.3:p.Thr299= | |
ENST00000420892.1:c.120C>A | ENSP00000412676.1:p.Thr40= | |
NM_002775.4:c.897C>A | NP_002766.1:p.Thr299= | |
NM_002775.5:c.897C>A MANE Select | NP_002766.1:p.Thr299= |