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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.219172772G>A , CM000664.2:g.219172772G>A
GRCh38
NC_000002.11:g.220037494G>A , CM000664.1:g.220037494G>A
GRCh37
NC_000002.10:g.219745738G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000360507.10:c.1047C>T
MANE Select
ENSP00000353698.5:p.Cys349=
ENST00000360507.9:c.1047C>T
ENSP00000353698.5:p.Cys349=
ENST00000409789.5:c.1047C>T
ENSP00000386277.1:p.Cys349=
NM_015680.4:c.1047C>T
NP_056495.3:p.Cys349=
XM_005246462.2:c.1047C>T
XP_005246519.1:p.Cys349=
XM_005246463.3:c.1047C>T
XP_005246520.1:p.Cys349=
XM_006712419.1:c.1047C>T
XP_006712482.1:p.Cys349=
NM_001321389.1:c.1047C>T
NP_001308318.1:p.Cys349=
NM_001321390.1:c.1047C>T
NP_001308319.1:p.Cys349=
NM_001321391.1:c.1047C>T
NP_001308320.1:p.Cys349=
NM_015680.5:c.1047C>T
NP_056495.3:p.Cys349=
NR_135628.1:n.1092C>T
NR_135629.1:n.1150C>T
XM_024452790.1:c.1077C>T
XP_024308558.1:p.Cys359=
NM_015680.6:c.1047C>T
MANE Select
NP_056495.4:p.Cys349=
NM_001321390.2:c.1047C>T
NP_001308319.2:p.Cys349=
NM_001321391.2:c.1047C>T
NP_001308320.2:p.Cys349=
NR_135628.2:n.1075C>T
NR_135629.2:n.1082C>T
NM_001321389.2:c.1047C>T
NP_001308318.2:p.Cys349=