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Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.150057347C>T , CM000667.2:g.150057347C>T
GRCh38
NC_000005.9:g.149436910C>T , CM000667.1:g.149436910C>T
GRCh37
NC_000005.8:g.149417103C>T
NCBI36
NG_012303.1:g.61026G>A
NG_012303.2:g.61026G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000675795.1:c.2259G>A
MANE Select
ENSP00000501699.1:p.Arg753=
ENST00000286301.7:c.2259G>A
ENSP00000286301.3:p.Arg753=
ENST00000504875.5:c.*80G>A
ENSP00000422212.1:n.*80G>A
ENST00000515068.1:c.428G>A
ENSP00000427545.1:n.428G>A
NM_001288705.1:c.2259G>A
NP_001275634.1:p.Arg753=
NM_005211.3:c.2259G>A
NP_005202.2:p.Arg753=
NR_109969.1:n.2309G>A
NM_001288705.2:c.2259G>A
NP_001275634.1:p.Arg753=
NM_001349736.1:c.2259G>A
NP_001336665.1:p.Arg753=
NM_001288705.3:c.2259G>A
MANE Select
NP_001275634.1:p.Arg753=
NM_001375320.1:c.2259G>A
NP_001362249.1:p.Arg753=
NM_001375321.1:c.1815G>A
NP_001362250.1:p.Arg605=
NR_164679.1:n.2152G>A
NM_001349736.2:c.2259G>A
NP_001336665.1:p.Arg753=
NM_005211.4:c.2259G>A
NP_005202.2:p.Arg753=
NR_109969.2:n.2223G>A