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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.238397645A>C , CM000664.2:g.238397645A>C
GRCh38
NC_000002.11:g.239306286A>C , CM000664.1:g.239306286A>C
GRCh37
NC_000002.10:g.238971025A>C
NCBI36
NG_053055.1:g.82157A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000373327.5:c.1876A>C
MANE Select
ENSP00000362424.4:p.Arg626=
ENST00000373327.4:c.1876A>C
ENSP00000362424.4:p.Arg626=
ENST00000391993.7:c.1678A>C
ENSP00000375851.3:p.Arg560=
ENST00000462122.1:n.887A>C
ENST00000483951.1:n.224A>C
NM_001139490.1:c.1678A>C
NP_001132962.1:p.Arg560=
NM_015650.3:c.1876A>C
NP_056465.2:p.Arg626=
XM_006712414.1:c.1675A>C
XP_006712477.1:p.Arg559=
XM_011510944.1:c.1978A>C
XP_011509246.1:p.Arg660=
XM_011510945.1:c.1939A>C
XP_011509247.1:p.Arg647=
XM_011510946.1:c.1906A>C
XP_011509248.1:p.Arg636=
XM_011510947.1:c.1846A>C
XP_011509249.1:p.Arg616=
XM_011510948.1:c.1780A>C
XP_011509250.1:p.Arg594=
XM_011510950.1:c.844A>C
XP_011509252.1:p.Arg282=
XM_006712414.2:c.1675A>C
XP_006712477.1:p.Arg559=
XM_011510944.2:c.1978A>C
XP_011509246.1:p.Arg660=
XM_011510945.2:c.1939A>C
XP_011509247.1:p.Arg647=
XM_011510946.2:c.1906A>C
XP_011509248.1:p.Arg636=
XM_011510947.2:c.1846A>C
XP_011509249.1:p.Arg616=
XM_011510948.2:c.1780A>C
XP_011509250.1:p.Arg594=
XM_011510950.2:c.844A>C
XP_011509252.1:p.Arg282=
XM_017003789.1:c.1975A>C
XP_016859278.1:p.Arg659=
XR_001738696.1:n.1704A>C
XR_001738697.1:n.1701A>C
NM_015650.4:c.1876A>C
MANE Select
NP_056465.2:p.Arg626=