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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.42731300G= , CM000677.2:g.42731300G=
GRCh38
NC_000015.9:g.43023498G= , CM000677.1:g.43023498G=
GRCh37
NC_000015.8:g.40810790G=
NCBI36
NG_012491.1:g.10920C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000356231.4:c.1771C=
MANE Select
ENSP00000348564.3:p.Leu591=
ENST00000643434.1:c.*949C=
ENSP00000494699.1:n.*949C=
ENST00000356231.3:c.1771C=
ENSP00000348564.3:p.Leu591=
NM_138477.2:c.1771C=
NP_612486.2:p.Leu591=
XM_005254176.3:c.1774C=
XP_005254233.1:p.Leu592=
XM_011521270.1:c.1798C=
XP_011519572.1:p.Leu600=
XM_011521271.1:c.1795C=
XP_011519573.1:p.Leu599=
XM_011521272.1:c.1798C=
XP_011519574.1:p.Leu600=
XM_011521273.1:c.1798C=
XP_011519575.1:p.Leu600=
XM_011521274.1:c.763C=
XP_011519576.1:p.Leu255=
XM_011521275.1:c.1015C=
XP_011519577.1:p.Leu339=
XR_931757.1:n.1809C=
NM_138477.4:c.1771C=
MANE Select
NP_612486.2:p.Leu591=
XM_005254176.5:c.1774C=
XP_005254233.1:p.Leu592=
XM_011521270.2:c.1798C=
XP_011519572.1:p.Leu600=
XM_011521271.2:c.1795C=
XP_011519573.1:p.Leu599=
XM_011521274.2:c.763C=
XP_011519576.1:p.Leu255=
XR_001751104.1:n.1828C=
XR_001751105.1:n.1828C=
XR_931757.2:n.1829C=