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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.42731277G>A , CM000677.2:g.42731277G>A
GRCh38
NC_000015.9:g.43023475G>A , CM000677.1:g.43023475G>A
GRCh37
NC_000015.8:g.40810767G>A
NCBI36
NG_012491.1:g.10943C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000356231.4:c.1794C>T
MANE Select
ENSP00000348564.3:p.Leu598=
ENST00000643434.1:c.*972C>T
ENSP00000494699.1:n.*972C>T
ENST00000356231.3:c.1794C>T
ENSP00000348564.3:p.Leu598=
NM_138477.2:c.1794C>T
NP_612486.2:p.Leu598=
XM_005254176.3:c.1797C>T
XP_005254233.1:p.Leu599=
XM_011521270.1:c.1821C>T
XP_011519572.1:p.Leu607=
XM_011521271.1:c.1818C>T
XP_011519573.1:p.Leu606=
XM_011521272.1:c.1821C>T
XP_011519574.1:p.Leu607=
XM_011521273.1:c.1821C>T
XP_011519575.1:p.Leu607=
XM_011521274.1:c.786C>T
XP_011519576.1:p.Leu262=
XM_011521275.1:c.1038C>T
XP_011519577.1:p.Leu346=
XR_931757.1:n.1832C>T
NM_138477.4:c.1794C>T
MANE Select
NP_612486.2:p.Leu598=
XM_005254176.5:c.1797C>T
XP_005254233.1:p.Leu599=
XM_011521270.2:c.1821C>T
XP_011519572.1:p.Leu607=
XM_011521271.2:c.1818C>T
XP_011519573.1:p.Leu606=
XM_011521274.2:c.786C>T
XP_011519576.1:p.Leu262=
XR_001751104.1:n.1851C>T
XR_001751105.1:n.1851C>T
XR_931757.2:n.1852C>T