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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.42731265G>A , CM000677.2:g.42731265G>A
GRCh38
NC_000015.9:g.43023463G>A , CM000677.1:g.43023463G>A
GRCh37
NC_000015.8:g.40810755G>A
NCBI36
NG_012491.1:g.10955C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000356231.4:c.1806C>T
MANE Select
ENSP00000348564.3:p.Ala602=
ENST00000643434.1:c.*984C>T
ENSP00000494699.1:n.*984C>T
ENST00000356231.3:c.1806C>T
ENSP00000348564.3:p.Ala602=
NM_138477.2:c.1806C>T
NP_612486.2:p.Ala602=
XM_005254176.3:c.1809C>T
XP_005254233.1:p.Ala603=
XM_011521270.1:c.1833C>T
XP_011519572.1:p.Ala611=
XM_011521271.1:c.1830C>T
XP_011519573.1:p.Ala610=
XM_011521272.1:c.1833C>T
XP_011519574.1:p.Ala611=
XM_011521273.1:c.1833C>T
XP_011519575.1:p.Ala611=
XM_011521274.1:c.798C>T
XP_011519576.1:p.Ala266=
XM_011521275.1:c.1050C>T
XP_011519577.1:p.Ala350=
XR_931757.1:n.1844C>T
NM_138477.4:c.1806C>T
MANE Select
NP_612486.2:p.Ala602=
XM_005254176.5:c.1809C>T
XP_005254233.1:p.Ala603=
XM_011521270.2:c.1833C>T
XP_011519572.1:p.Ala611=
XM_011521271.2:c.1830C>T
XP_011519573.1:p.Ala610=
XM_011521274.2:c.798C>T
XP_011519576.1:p.Ala266=
XR_001751104.1:n.1863C>T
XR_001751105.1:n.1863C>T
XR_931757.2:n.1864C>T