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Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.150057371C= , CM000667.2:g.150057371C=
GRCh38
NC_000005.9:g.149436934C= , CM000667.1:g.149436934C=
GRCh37
NC_000005.8:g.149417127C=
NCBI36
NG_012303.1:g.61002G=
NG_012303.2:g.61002G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000675795.1:c.2235G=
MANE Select
ENSP00000501699.1:p.Glu745=
ENST00000286301.7:c.2235G=
ENSP00000286301.3:p.Glu745=
ENST00000504875.5:c.*56G=
ENSP00000422212.1:n.*56G=
ENST00000515068.1:c.404G=
ENSP00000427545.1:n.404G=
NM_001288705.1:c.2235G=
NP_001275634.1:p.Glu745=
NM_005211.3:c.2235G=
NP_005202.2:p.Glu745=
NR_109969.1:n.2285G=
NM_001288705.2:c.2235G=
NP_001275634.1:p.Glu745=
NM_001349736.1:c.2235G=
NP_001336665.1:p.Glu745=
NM_001288705.3:c.2235G=
MANE Select
NP_001275634.1:p.Glu745=
NM_001375320.1:c.2235G=
NP_001362249.1:p.Glu745=
NM_001375321.1:c.1791G=
NP_001362250.1:p.Glu597=
NR_164679.1:n.2128G=
NM_001349736.2:c.2235G=
NP_001336665.1:p.Glu745=
NM_005211.4:c.2235G=
NP_005202.2:p.Glu745=
NR_109969.2:n.2199G=