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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.42731325C>T , CM000677.2:g.42731325C>T
GRCh38
NC_000015.9:g.43023523C>T , CM000677.1:g.43023523C>T
GRCh37
NC_000015.8:g.40810815C>T
NCBI36
NG_012491.1:g.10895G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000356231.4:c.1746G>A
MANE Select
ENSP00000348564.3:p.Gln582=
ENST00000643434.1:c.*924G>A
ENSP00000494699.1:n.*924G>A
ENST00000356231.3:c.1746G>A
ENSP00000348564.3:p.Gln582=
NM_138477.2:c.1746G>A
NP_612486.2:p.Gln582=
XM_005254176.3:c.1749G>A
XP_005254233.1:p.Gln583=
XM_011521270.1:c.1773G>A
XP_011519572.1:p.Gln591=
XM_011521271.1:c.1770G>A
XP_011519573.1:p.Gln590=
XM_011521272.1:c.1773G>A
XP_011519574.1:p.Gln591=
XM_011521273.1:c.1773G>A
XP_011519575.1:p.Gln591=
XM_011521274.1:c.738G>A
XP_011519576.1:p.Gln246=
XM_011521275.1:c.990G>A
XP_011519577.1:p.Gln330=
XR_931757.1:n.1784G>A
NM_138477.4:c.1746G>A
MANE Select
NP_612486.2:p.Gln582=
XM_005254176.5:c.1749G>A
XP_005254233.1:p.Gln583=
XM_011521270.2:c.1773G>A
XP_011519572.1:p.Gln591=
XM_011521271.2:c.1770G>A
XP_011519573.1:p.Gln590=
XM_011521274.2:c.738G>A
XP_011519576.1:p.Gln246=
XR_001751104.1:n.1803G>A
XR_001751105.1:n.1803G>A
XR_931757.2:n.1804G>A