HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190402372C>A , CM000665.2:g.190402372C>A | GRCh38 |
NC_000003.11:g.190120161C>A , CM000665.1:g.190120161C>A | GRCh37 |
NC_000003.10:g.191602855C>A | NCBI36 |
NG_008149.1:g.19321C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264734.3:c.150C>A MANE Select | ENSP00000264734.3:p.Cys50Ter | |
ENST00000456423.2:c.115-7531C>A | ENSP00000414136.2:n.115-7531C>A | |
ENST00000264734.2:c.360C>A | ENSP00000264734.2:p.Cys120Ter | |
ENST00000456423.1:c.325-7531C>A | ENSP00000414136.1:n.325-7531C>A | |
ENST00000468220.1:n.342C>A | ||
NM_006580.3:c.360C>A | NP_006571.1:p.Cys120Ter | |
NM_001378492.1:c.150C>A | NP_001365421.1:p.Cys50Ter | |
NM_001378493.1:c.150C>A | NP_001365422.1:p.Cys50Ter | |
NM_006580.4:c.150C>A MANE Select | NP_006571.2:p.Cys50Ter |