HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7455345T>A , CM000679.2:g.7455345T>A | GRCh38 |
NC_000017.10:g.7358664T>A , CM000679.1:g.7358664T>A | GRCh37 |
NC_000017.9:g.7299388T>A | NCBI36 |
NG_008026.1:g.15259T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306071.7:c.1106T>A MANE Select | ENSP00000304290.2:p.Leu369Gln | |
ENST00000306071.6:c.1106T>A | ENSP00000304290.2:p.Leu369Gln | |
ENST00000536404.6:c.890T>A | ENSP00000439209.2:p.Leu297Gln | |
ENST00000570557.5:c.769T>A | ||
ENST00000573209.1:n.2050T>A | ||
ENST00000576360.1:c.743T>A | ENSP00000459092.1:p.Leu248Gln | |
NM_000747.2:c.1106T>A | NP_000738.2:p.Leu369Gln | |
NM_000747.3:c.1106T>A MANE Select | NP_000738.2:p.Leu369Gln |