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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.238397494G= , CM000664.2:g.238397494G=
GRCh38
NC_000002.11:g.239306135G= , CM000664.1:g.239306135G=
GRCh37
NC_000002.10:g.238970874G=
NCBI36
NG_053055.1:g.82006G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000373327.5:c.1725G=
MANE Select
ENSP00000362424.4:p.Glu575=
ENST00000373327.4:c.1725G=
ENSP00000362424.4:p.Glu575=
ENST00000391993.7:c.1527G=
ENSP00000375851.3:p.Glu509=
ENST00000462122.1:n.736G=
ENST00000483951.1:n.73G=
NM_001139490.1:c.1527G=
NP_001132962.1:p.Glu509=
NM_015650.3:c.1725G=
NP_056465.2:p.Glu575=
XM_006712414.1:c.1524G=
XP_006712477.1:p.Glu508=
XM_011510944.1:c.1827G=
XP_011509246.1:p.Glu609=
XM_011510945.1:c.1788G=
XP_011509247.1:p.Glu596=
XM_011510946.1:c.1755G=
XP_011509248.1:p.Glu585=
XM_011510947.1:c.1695G=
XP_011509249.1:p.Glu565=
XM_011510948.1:c.1629G=
XP_011509250.1:p.Glu543=
XM_011510950.1:c.693G=
XP_011509252.1:p.Glu231=
XR_922902.1:n.2024G=
XM_006712414.2:c.1524G=
XP_006712477.1:p.Glu508=
XM_011510944.2:c.1827G=
XP_011509246.1:p.Glu609=
XM_011510945.2:c.1788G=
XP_011509247.1:p.Glu596=
XM_011510946.2:c.1755G=
XP_011509248.1:p.Glu585=
XM_011510947.2:c.1695G=
XP_011509249.1:p.Glu565=
XM_011510948.2:c.1629G=
XP_011509250.1:p.Glu543=
XM_011510950.2:c.693G=
XP_011509252.1:p.Glu231=
XM_017003789.1:c.1824G=
XP_016859278.1:p.Glu608=
XR_001738696.1:n.1553G=
XR_001738697.1:n.1550G=
XR_922902.2:n.2087G=
NM_015650.4:c.1725G=
MANE Select
NP_056465.2:p.Glu575=