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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.119033280G>A , CM000663.2:g.119033280G>A
GRCh38
NC_000001.10:g.119575903G>A , CM000663.1:g.119575903G>A
GRCh37
NC_000001.9:g.119377426G>A
NCBI36
NG_050658.1:g.112509C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000235521.5:c.714C>T
MANE Select
ENSP00000235521.4:p.Val238=
ENST00000235521.4:c.714C>T
ENSP00000235521.4:p.Val238=
ENST00000369426.9:c.*80C>T
ENSP00000358434.5:n.*80C>T
NM_015836.3:c.714C>T
NP_056651.1:p.Val238=
NM_201263.2:c.*80C>T
NP_957715.1:n.*80C>T
XM_005270350.2:c.660C>T
XP_005270407.1:p.Val220=
XM_006710283.1:c.432C>T
XP_006710346.1:p.Val144=
XM_011540493.1:c.645C>T
XP_011538795.1:p.Val215=
XM_011540494.1:c.645C>T
XP_011538796.1:p.Val215=
XM_011540495.1:c.456C>T
XP_011538797.1:p.Val152=
XM_005270350.3:c.660C>T
XP_005270407.1:p.Val220=
XM_011540494.2:c.645C>T
XP_011538796.1:p.Val215=
XM_011540495.2:c.456C>T
XP_011538797.1:p.Val152=
XM_017000038.1:c.657C>T
XP_016855527.1:p.Val219=
XM_017000039.1:c.645C>T
XP_016855528.1:p.Val215=
XM_017000040.1:c.543C>T
XP_016855529.1:p.Val181=
XM_017000041.2:c.375C>T
XP_016855530.1:p.Val125=
XM_017000042.1:c.*49C>T
XP_016855531.1:n.*49C>T
XM_024449826.1:c.645C>T
XP_024305594.1:p.Val215=
XM_024449860.1:c.432C>T
XP_024305628.1:p.Val144=
XM_024449871.1:c.432C>T
XP_024305639.1:p.Val144=
NM_001378226.1:c.645C>T
NP_001365155.1:p.Val215=
NM_001378227.1:c.645C>T
NP_001365156.1:p.Val215=
NM_001378228.1:c.543C>T
NP_001365157.1:p.Val181=
NM_001378229.1:c.456C>T
NP_001365158.1:p.Val152=
NM_001378230.1:c.432C>T
NP_001365159.1:p.Val144=
NM_001378231.1:c.*49C>T
NP_001365160.1:n.*49C>T
NM_015836.4:c.714C>T
MANE Select
NP_056651.1:p.Val238=