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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.42731328G>A , CM000677.2:g.42731328G>A
GRCh38
NC_000015.9:g.43023526G>A , CM000677.1:g.43023526G>A
GRCh37
NC_000015.8:g.40810818G>A
NCBI36
NG_012491.1:g.10892C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000356231.4:c.1743C>T
MANE Select
ENSP00000348564.3:p.Phe581=
ENST00000643434.1:c.*921C>T
ENSP00000494699.1:n.*921C>T
ENST00000356231.3:c.1743C>T
ENSP00000348564.3:p.Phe581=
NM_138477.2:c.1743C>T
NP_612486.2:p.Phe581=
XM_005254176.3:c.1746C>T
XP_005254233.1:p.Phe582=
XM_011521270.1:c.1770C>T
XP_011519572.1:p.Phe590=
XM_011521271.1:c.1767C>T
XP_011519573.1:p.Phe589=
XM_011521272.1:c.1770C>T
XP_011519574.1:p.Phe590=
XM_011521273.1:c.1770C>T
XP_011519575.1:p.Phe590=
XM_011521274.1:c.735C>T
XP_011519576.1:p.Phe245=
XM_011521275.1:c.987C>T
XP_011519577.1:p.Phe329=
XR_931757.1:n.1781C>T
NM_138477.4:c.1743C>T
MANE Select
NP_612486.2:p.Phe581=
XM_005254176.5:c.1746C>T
XP_005254233.1:p.Phe582=
XM_011521270.2:c.1770C>T
XP_011519572.1:p.Phe590=
XM_011521271.2:c.1767C>T
XP_011519573.1:p.Phe589=
XM_011521274.2:c.735C>T
XP_011519576.1:p.Phe245=
XR_001751104.1:n.1800C>T
XR_001751105.1:n.1800C>T
XR_931757.2:n.1801C>T