HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55156193G= , CM000681.2:g.55156193G= | GRCh38 |
NC_000019.9:g.55667561G= , CM000681.1:g.55667561G= | GRCh37 |
NC_000019.8:g.60359373G= | NCBI36 |
NG_007866.2:g.6540C= , LRG_432:g.6540C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.282+8C= MANE Select | ENSP00000341838.5:n.282+8C= | |
ENST00000665070.1:c.282+8C= | ENSP00000499482.1:n.282+8C= | |
ENST00000344887.9:c.282+8C= | ENSP00000341838.5:n.282+8C= | |
ENST00000585806.5:n.281+8C= | ||
ENST00000586669.5:n.290+8C= | ||
ENST00000587176.5:n.466+8C= | ||
ENST00000587871.1:c.901+8C= | ||
ENST00000588882.1:c.207+8C= | ENSP00000466729.1:n.207+8C= | |
ENST00000590463.1:n.454+8C= | ||
NM_000363.4:c.282+8C= , LRG_432t1:c.282+8C= | NP_000354.4:n.282+8C= | |
NM_000363.5:c.282+8C= MANE Select | NP_000354.4:n.282+8C= |