HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122506795C= , CM000672.2:g.122506795C= | GRCh38 |
NC_000010.10:g.124266311C= , CM000672.1:g.124266311C= | GRCh37 |
NC_000010.9:g.124256301C= | NCBI36 |
NG_011554.1:g.50271C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000368984.8:c.882C= MANE Select | ENSP00000357980.3:p.Thr294= | |
ENST00000648167.1:c.564C= | ENSP00000498033.1:p.Thr188= | |
ENST00000368984.7:c.882C= | ENSP00000357980.3:p.Thr294= | |
ENST00000420892.1:c.105C= | ENSP00000412676.1:p.Thr35= | |
NM_002775.4:c.882C= | NP_002766.1:p.Thr294= | |
NM_002775.5:c.882C= MANE Select | NP_002766.1:p.Thr294= |