HGVS | Genome Assembly |
---|---|
NC_000014.9:g.93218717T>A , CM000676.2:g.93218717T>A | GRCh38 |
NC_000014.8:g.93685063T>A , CM000676.1:g.93685063T>A | GRCh37 |
NC_000014.7:g.92754816T>A | NCBI36 |
NG_051089.1:g.16662T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000013070.11:c.792T>A MANE Select | ENSP00000013070.6:p.Ser264Arg | |
ENST00000013070.10:c.792T>A | ENSP00000013070.6:p.Ser264Arg | |
ENST00000416753.5:c.564T>A | ENSP00000391706.2:p.Ser188Arg | |
ENST00000553674.1:c.*493T>A | ENSP00000450470.1:n.*493T>A | |
ENST00000553857.5:c.378+3436T>A | ||
ENST00000555329.1:c.37T>A | ||
NM_175748.3:c.792T>A | NP_786924.2:p.Ser264Arg | |
NR_038150.1:n.894T>A | ||
NM_175748.4:c.792T>A MANE Select | NP_786924.2:p.Ser264Arg | |
NR_038150.2:n.694T>A |