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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.119033261C= , CM000663.2:g.119033261C=
GRCh38
NC_000001.10:g.119575884C= , CM000663.1:g.119575884C=
GRCh37
NC_000001.9:g.119377407C=
NCBI36
NG_050658.1:g.112528G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000235521.5:c.733G=
MANE Select
ENSP00000235521.4:p.Glu245=
ENST00000235521.4:c.733G=
ENSP00000235521.4:p.Glu245=
ENST00000369426.9:c.*99G=
ENSP00000358434.5:n.*99G=
NM_015836.3:c.733G=
NP_056651.1:p.Glu245=
NM_201263.2:c.*99G=
NP_957715.1:n.*99G=
XM_005270350.2:c.679G=
XP_005270407.1:p.Glu227=
XM_006710283.1:c.451G=
XP_006710346.1:p.Glu151=
XM_011540493.1:c.664G=
XP_011538795.1:p.Glu222=
XM_011540494.1:c.664G=
XP_011538796.1:p.Glu222=
XM_011540495.1:c.475G=
XP_011538797.1:p.Glu159=
XM_005270350.3:c.679G=
XP_005270407.1:p.Glu227=
XM_011540494.2:c.664G=
XP_011538796.1:p.Glu222=
XM_011540495.2:c.475G=
XP_011538797.1:p.Glu159=
XM_017000038.1:c.676G=
XP_016855527.1:p.Glu226=
XM_017000039.1:c.664G=
XP_016855528.1:p.Glu222=
XM_017000040.1:c.562G=
XP_016855529.1:p.Glu188=
XM_017000041.2:c.394G=
XP_016855530.1:p.Glu132=
XM_017000042.1:c.*68G=
XP_016855531.1:n.*68G=
XM_024449826.1:c.664G=
XP_024305594.1:p.Glu222=
XM_024449860.1:c.451G=
XP_024305628.1:p.Glu151=
XM_024449871.1:c.451G=
XP_024305639.1:p.Glu151=
NM_001378226.1:c.664G=
NP_001365155.1:p.Glu222=
NM_001378227.1:c.664G=
NP_001365156.1:p.Glu222=
NM_001378228.1:c.562G=
NP_001365157.1:p.Glu188=
NM_001378229.1:c.475G=
NP_001365158.1:p.Glu159=
NM_001378230.1:c.451G=
NP_001365159.1:p.Glu151=
NM_001378231.1:c.*68G=
NP_001365160.1:n.*68G=
NM_015836.4:c.733G=
MANE Select
NP_056651.1:p.Glu245=