HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7455860C>G , CM000679.2:g.7455860C>G | GRCh38 |
NC_000017.10:g.7359179C>G , CM000679.1:g.7359179C>G | GRCh37 |
NC_000017.9:g.7299903C>G | NCBI36 |
NG_008026.1:g.15774C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306071.7:c.1284C>G MANE Select | ENSP00000304290.2:p.Ala428= | |
ENST00000306071.6:c.1284C>G | ENSP00000304290.2:p.Ala428= | |
ENST00000536404.6:c.1068C>G | ENSP00000439209.2:p.Ala356= | |
ENST00000570557.5:c.947C>G | ||
ENST00000575379.1:c.-109C>G | ENSP00000461751.1:n.-109C>G | |
ENST00000576360.1:c.921C>G | ENSP00000459092.1:p.Ala307= | |
NM_000747.2:c.1284C>G | NP_000738.2:p.Ala428= | |
NM_000747.3:c.1284C>G MANE Select | NP_000738.2:p.Ala428= |