HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7454358G>A , CM000679.2:g.7454358G>A | GRCh38 |
NC_000017.10:g.7357677G>A , CM000679.1:g.7357677G>A | GRCh37 |
NC_000017.9:g.7298401G>A | NCBI36 |
NG_008026.1:g.14272G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.882G>A MANE Select | ENSP00000304290.2:p.Leu294= | |
ENST00000306071.6:c.882G>A | ENSP00000304290.2:p.Leu294= | |
ENST00000536404.6:c.666G>A | ENSP00000439209.2:p.Leu222= | |
ENST00000570557.5:c.545G>A | ||
ENST00000573209.1:n.1826G>A | ||
ENST00000576360.1:c.605-86G>A | ENSP00000459092.1:n.605-86G>A | |
NM_000747.2:c.882G>A | NP_000738.2:p.Leu294= | |
NM_000747.3:c.882G>A MANE Select | NP_000738.2:p.Leu294= |