HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73322514C= , CM000677.2:g.73322514C= | GRCh38 |
NC_000015.9:g.73614855C= , CM000677.1:g.73614855C= | GRCh37 |
NC_000015.8:g.71401908C= | NCBI36 |
NG_009063.1:g.51751G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.3579G= MANE Select | ENSP00000261917.3:p.Glu1193= | |
ENST00000261917.3:c.3579G= | ENSP00000261917.3:p.Glu1193= | |
NM_005477.2:c.3579G= | NP_005468.1:p.Glu1193= | |
XM_011521148.1:c.2361G= | XP_011519450.1:p.Glu787= | |
XM_011521148.2:c.2361G= | XP_011519450.1:p.Glu787= | |
NM_005477.3:c.3579G= MANE Select | NP_005468.1:p.Glu1193= |