HGVS | Genome Assembly |
---|---|
NC_000019.10:g.39247979C= , CM000681.2:g.39247979C= | GRCh38 |
NC_000019.9:g.39738619C= , CM000681.1:g.39738619C= | GRCh37 |
NC_000019.8:g.44430459C= | NCBI36 |
NG_042193.1:g.1993G= | |
NG_055295.1:g.5878G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000606380.2:c.168G= | ENSP00000476098.1:p.Glu56= | |
ENST00000610963.1:c.167G= | ENSP00000481371.1:p.Ser56= | |
ENST00000616270.4:c.168G= | ENSP00000480679.1:p.Glu56= | |
ENST00000634680.1:c.151+450G= | ENSP00000489240.1:n.151+450G= | |
ENST00000634967.1:c.168G= | ENSP00000489559.1:p.Glu56= | |
NR_074079.1:n.445G= |