HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7455889C>G , CM000679.2:g.7455889C>G | GRCh38 |
NC_000017.10:g.7359208C>G , CM000679.1:g.7359208C>G | GRCh37 |
NC_000017.9:g.7299932C>G | NCBI36 |
NG_008026.1:g.15803C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.1313C>G MANE Select | ENSP00000304290.2:p.Ser438Cys | |
ENST00000306071.6:c.1313C>G | ENSP00000304290.2:p.Ser438Cys | |
ENST00000536404.6:c.1097C>G | ENSP00000439209.2:p.Ser366Cys | |
ENST00000575379.1:c.-80C>G | ENSP00000461751.1:n.-80C>G | |
ENST00000576360.1:c.950C>G | ENSP00000459092.1:p.Ser317Cys | |
NM_000747.2:c.1313C>G | NP_000738.2:p.Ser438Cys | |
NM_000747.3:c.1313C>G MANE Select | NP_000738.2:p.Ser438Cys |