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Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.139379721A>G , CM000667.2:g.139379721A>G
GRCh38
NC_000005.9:g.138715410A>G , CM000667.1:g.138715410A>G
GRCh37
NC_000005.8:g.138743309A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000348729.8:c.882T>C
MANE Select
ENSP00000302701.4:p.Gly294=
ENST00000348729.7:c.882T>C
ENSP00000302701.4:p.Gly294=
ENST00000353963.7:c.894T>C
ENSP00000302851.5:p.Gly298=
ENST00000504513.1:c.164+235T>C
ENST00000506512.1:n.493T>C
NM_005847.4:c.882T>C
NP_005838.3:p.Gly294=
NM_152685.3:c.894T>C
NP_689898.2:p.Gly298=
XM_005272148.3:c.1002T>C
XP_005272205.3:p.Gly334=
XM_005272149.3:c.990T>C
XP_005272206.3:p.Gly330=
XM_006714741.2:c.1002T>C
XP_006714804.2:p.Gly334=
XM_011543765.1:c.1002T>C
XP_011542067.1:p.Gly334=
XM_011543766.1:c.783T>C
XP_011542068.1:p.Gly261=
XM_011543767.1:c.687T>C
XP_011542069.1:p.Gly229=
XM_011543768.1:c.567T>C
XP_011542070.1:p.Gly189=
XM_011543769.1:c.177T>C
XP_011542071.1:p.Gly59=
XM_005272149.4:c.990T>C
XP_005272206.3:p.Gly330=
XM_011543765.2:c.1002T>C
XP_011542067.1:p.Gly334=
NM_005847.5:c.882T>C
MANE Select
NP_005838.3:p.Gly294=
NM_152685.4:c.894T>C
NP_689898.2:p.Gly298=