HGVS | Genome Assembly |
---|---|
NC_000022.11:g.43928827T>A , CM000684.2:g.43928827T>A | GRCh38 |
NC_000022.10:g.44324707T>A , CM000684.1:g.44324707T>A | GRCh37 |
NC_000022.9:g.42656040T>A | NCBI36 |
NG_008631.1:g.10089T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216180.8:c.424T>A MANE Select | ENSP00000216180.3:p.Leu142Met | |
ENST00000216180.7:c.424T>A | ENSP00000216180.3:p.Leu142Met | |
ENST00000406117.6:c.*56T>A | ENSP00000384668.2:n.*56T>A | |
ENST00000423180.2:c.412T>A | ENSP00000397987.2:p.Leu138Met | |
ENST00000478713.1:n.458T>A | ||
NM_025225.2:c.424T>A | NP_079501.2:p.Leu142Met | |
NM_025225.3:c.424T>A MANE Select | NP_079501.2:p.Leu142Met |