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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.119033194G= , CM000663.2:g.119033194G=
GRCh38
NC_000001.10:g.119575817G= , CM000663.1:g.119575817G=
GRCh37
NC_000001.9:g.119377340G=
NCBI36
NG_050658.1:g.112595C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000235521.5:c.800C=
MANE Select
ENSP00000235521.4:p.Ala267=
ENST00000235521.4:c.800C=
ENSP00000235521.4:p.Ala267=
ENST00000369426.9:c.*166C=
ENSP00000358434.5:n.*166C=
NM_015836.3:c.800C=
NP_056651.1:p.Ala267=
NM_201263.2:c.*166C=
NP_957715.1:n.*166C=
XM_005270350.2:c.746C=
XP_005270407.1:p.Ala249=
XM_006710283.1:c.518C=
XP_006710346.1:p.Ala173=
XM_011540493.1:c.731C=
XP_011538795.1:p.Ala244=
XM_011540494.1:c.731C=
XP_011538796.1:p.Ala244=
XM_011540495.1:c.542C=
XP_011538797.1:p.Ala181=
XM_005270350.3:c.746C=
XP_005270407.1:p.Ala249=
XM_011540494.2:c.731C=
XP_011538796.1:p.Ala244=
XM_011540495.2:c.542C=
XP_011538797.1:p.Ala181=
XM_017000038.1:c.743C=
XP_016855527.1:p.Ala248=
XM_017000039.1:c.731C=
XP_016855528.1:p.Ala244=
XM_017000040.1:c.629C=
XP_016855529.1:p.Ala210=
XM_017000041.2:c.461C=
XP_016855530.1:p.Ala154=
XM_017000042.1:c.*135C=
XP_016855531.1:n.*135C=
XM_024449826.1:c.731C=
XP_024305594.1:p.Ala244=
XM_024449860.1:c.518C=
XP_024305628.1:p.Ala173=
XM_024449871.1:c.518C=
XP_024305639.1:p.Ala173=
NM_001378226.1:c.731C=
NP_001365155.1:p.Ala244=
NM_001378227.1:c.731C=
NP_001365156.1:p.Ala244=
NM_001378228.1:c.629C=
NP_001365157.1:p.Ala210=
NM_001378229.1:c.542C=
NP_001365158.1:p.Ala181=
NM_001378230.1:c.518C=
NP_001365159.1:p.Ala173=
NM_001378231.1:c.*135C=
NP_001365160.1:n.*135C=
NM_015836.4:c.800C=
MANE Select
NP_056651.1:p.Ala267=