HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55156207C>G , CM000681.2:g.55156207C>G | GRCh38 |
NC_000019.9:g.55667575C>G , CM000681.1:g.55667575C>G | GRCh37 |
NC_000019.8:g.60359387C>G | NCBI36 |
NG_007866.2:g.6526G>C , LRG_432:g.6526G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.276G>C MANE Select | ENSP00000341838.5:p.Glu92Asp | |
ENST00000665070.1:c.276G>C | ENSP00000499482.1:p.Glu92Asp | |
ENST00000344887.9:c.276G>C | ENSP00000341838.5:p.Glu92Asp | |
ENST00000585806.5:n.275G>C | ||
ENST00000586669.5:n.284G>C | ||
ENST00000587176.5:n.460G>C | ||
ENST00000587871.1:c.895G>C | ||
ENST00000588882.1:c.201G>C | ENSP00000466729.1:p.Glu67Asp | |
ENST00000590463.1:n.448G>C | ||
NM_000363.4:c.276G>C , LRG_432t1:c.276G>C | NP_000354.4:p.Glu92Asp | |
NM_000363.5:c.276G>C MANE Select | NP_000354.4:p.Glu92Asp |