HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52519855T>A , CM000674.2:g.52519855T>A | GRCh38 |
NC_000012.11:g.52913639T>A , CM000674.1:g.52913639T>A | GRCh37 |
NC_000012.10:g.51199906T>A | NCBI36 |
NG_008297.1:g.5605A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.442A>T MANE Select | ENSP00000252242.4:p.Ser148Cys | |
ENST00000252242.8:c.442A>T | ENSP00000252242.4:p.Ser148Cys | |
ENST00000549420.1:c.112A>T | ENSP00000447209.1:p.Ser38Cys | |
ENST00000551275.1:c.337A>T | ENSP00000448041.1:p.Ser113Cys | |
ENST00000552629.5:n.540A>T | ||
NM_000424.3:c.442A>T | NP_000415.2:p.Ser148Cys | |
NM_000424.4:c.442A>T MANE Select | NP_000415.2:p.Ser148Cys |