HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7454424G= , CM000679.2:g.7454424G= | GRCh38 |
NC_000017.10:g.7357743G= , CM000679.1:g.7357743G= | GRCh37 |
NC_000017.9:g.7298467G= | NCBI36 |
NG_008026.1:g.14338G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.948G= MANE Select | ENSP00000304290.2:p.Met316= | |
ENST00000306071.6:c.948G= | ENSP00000304290.2:p.Met316= | |
ENST00000536404.6:c.732G= | ENSP00000439209.2:p.Met244= | |
ENST00000570557.5:c.611G= | ||
ENST00000573209.1:n.1892G= | ||
ENST00000576360.1:c.605-20G= | ENSP00000459092.1:n.605-20G= | |
NM_000747.2:c.948G= | NP_000738.2:p.Met316= | |
NM_000747.3:c.948G= MANE Select | NP_000738.2:p.Met316= |