HGVS | Genome Assembly |
---|---|
NC_000005.10:g.10286370T>A , CM000667.2:g.10286370T>A | GRCh38 |
NC_000005.9:g.10286482T>A , CM000667.1:g.10286482T>A | GRCh37 |
NC_000005.8:g.10339482T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296658.4:c.450A>T MANE Select | ENSP00000296658.3:p.Ala150= | |
ENST00000296658.3:c.450A>T | ENSP00000296658.3:p.Ala150= | |
ENST00000506821.1:n.704A>T | ||
ENST00000510532.5:n.518A>T | ||
ENST00000511963.5:n.558A>T | ||
NM_138809.3:c.450A>T | NP_620164.1:p.Ala150= | |
NM_138809.4:c.450A>T MANE Select | NP_620164.1:p.Ala150= |