HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122508712A>T , CM000672.2:g.122508712A>T | GRCh38 |
NC_000010.10:g.124268228A>T , CM000672.1:g.124268228A>T | GRCh37 |
NC_000010.9:g.124258218A>T | NCBI36 |
NG_011554.1:g.52188A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.1062A>T MANE Select | ENSP00000357980.3:p.Ala354= | |
ENST00000648167.1:c.744A>T | ENSP00000498033.1:p.Ala248= | |
ENST00000368984.7:c.1062A>T | ENSP00000357980.3:p.Ala354= | |
ENST00000420892.1:c.285A>T | ENSP00000412676.1:p.Ala95= | |
NM_002775.4:c.1062A>T | NP_002766.1:p.Ala354= | |
NM_002775.5:c.1062A>T MANE Select | NP_002766.1:p.Ala354= |