HGVS | Genome Assembly |
---|---|
NC_000003.12:g.179199066G>A , CM000665.2:g.179199066G>A | GRCh38 |
NC_000003.11:g.178916854G>A , CM000665.1:g.178916854G>A | GRCh37 |
NC_000003.10:g.180399548G>A | NCBI36 |
NG_012113.2:g.55544G>A , LRG_310:g.55544G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263967.4:c.241G>A MANE Select | ENSP00000263967.3:p.Glu81Lys | |
ENST00000643187.1:c.241G>A | ENSP00000493507.1:p.Glu81Lys | |
ENST00000675467.1:n.3048G>A | ||
ENST00000675786.1:c.241G>A | ENSP00000502323.1:p.Glu81Lys | |
ENST00000263967.3:c.241G>A | ENSP00000263967.3:p.Glu81Lys | |
ENST00000468036.1:c.241G>A | ENSP00000417479.1:p.Glu81Lys | |
NM_006218.2:c.241G>A , LRG_310t1:c.241G>A | NP_006209.2:p.Glu81Lys | |
XM_006713658.2:c.241G>A | XP_006713721.1:p.Glu81Lys | |
XM_011512894.1:c.241G>A | XP_011511196.1:p.Glu81Lys | |
NM_006218.3:c.241G>A | NP_006209.2:p.Glu81Lys | |
XM_006713658.4:c.241G>A | XP_006713721.1:p.Glu81Lys | |
XM_011512894.2:c.241G>A | XP_011511196.1:p.Glu81Lys | |
NM_006218.4:c.241G>A MANE Select | NP_006209.2:p.Glu81Lys |