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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.100281267C= , CM000677.2:g.100281267C=
GRCh38
NC_000015.9:g.100821472C= , CM000677.1:g.100821472C=
GRCh37
NC_000015.8:g.98638995C=
NCBI36
NG_016287.1:g.65712G=
NG_016287.2:g.65712G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000268070.9:c.751G=
MANE Select
ENSP00000268070.4:p.Glu251=
ENST00000568565.2:c.751G=
ENSP00000456161.2:p.Glu251=
ENST00000268070.8:c.751G=
ENSP00000268070.4:p.Glu251=
ENST00000378898.8:n.432G=
ENST00000558960.1:c.*173G=
ENSP00000453604.1:n.*173G=
NM_139057.2:c.751G=
NP_620688.2:p.Glu251=
XM_005254872.2:c.751G=
XP_005254929.1:p.Glu251=
XM_011521312.1:c.751G=
XP_011519614.1:p.Glu251=
NM_139057.3:c.751G=
NP_620688.2:p.Glu251=
XM_005254872.3:c.751G=
XP_005254929.1:p.Glu251=
XM_011521312.2:c.751G=
XP_011519614.1:p.Glu251=
XM_017021973.2:c.751G=
XP_016877462.1:p.Glu251=
XM_017021974.1:c.751G=
XP_016877463.1:p.Glu251=
XM_017021975.1:c.751G=
XP_016877464.1:p.Glu251=
XM_017021976.1:c.22G=
XP_016877465.1:p.Glu8=
XM_017021977.1:c.751G=
XP_016877466.1:p.Glu251=
XM_017021981.1:c.751G=
XP_016877470.1:p.Glu251=
XM_017021984.1:c.22G=
XP_016877473.1:p.Glu8=
XR_001751118.1:n.1773G=
XR_001751119.1:n.1773G=
XR_001751120.1:n.1773G=
NM_139057.4:c.751G=
MANE Select
NP_620688.2:p.Glu251=