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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.52506832G>A , CM000665.2:g.52506832G>A
GRCh38
NC_000003.11:g.52540848G>A , CM000665.1:g.52540848G>A
GRCh37
NC_000003.10:g.52515888G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000321725.10:c.1971G>A
MANE Select
ENSP00000312946.6:p.Glu657=
ENST00000481607.1:n.2026G>A
NM_015136.2:c.1971G>A
NP_055951.2:p.Glu657=
XM_005264973.2:c.1971G>A
XP_005265030.1:p.Glu657=
XM_005264974.2:c.1971G>A
XP_005265031.1:p.Glu657=
XM_005264975.2:c.1971G>A
XP_005265032.1:p.Glu657=
XM_006713065.1:c.1971G>A
XP_006713128.1:p.Glu657=
XM_011533528.1:c.1971G>A
XP_011531830.1:p.Glu657=
XR_940395.1:n.2047G>A
XM_005264973.3:c.1971G>A
XP_005265030.1:p.Glu657=
XM_017005998.1:c.1971G>A
XP_016861487.1:p.Glu657=
XM_017005999.1:c.1971G>A
XP_016861488.1:p.Glu657=
XM_017006000.1:c.1971G>A
XP_016861489.1:p.Glu657=
XM_017006001.1:c.1971G>A
XP_016861490.1:p.Glu657=
XM_017006002.1:c.1971G>A
XP_016861491.1:p.Glu657=
XM_017006003.1:c.1971G>A
XP_016861492.1:p.Glu657=
XM_017006004.2:c.1971G>A
XP_016861493.1:p.Glu657=
XR_001740064.1:n.2047G>A
NM_015136.3:c.1971G>A
MANE Select
NP_055951.2:p.Glu657=