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Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.53560732G= , CM000667.2:g.53560732G=
GRCh38
NC_000005.9:g.52856562G= , CM000667.1:g.52856562G=
GRCh37
NC_000005.8:g.52892319G=
NCBI36
NG_008200.1:g.5098G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000296684.10:c.70G=
MANE Select
ENSP00000296684.5:p.Ala24=
ENST00000296684.9:c.70G=
ENSP00000296684.5:p.Ala24=
ENST00000502423.5:c.70G=
ENSP00000422177.1:p.Ala24=
ENST00000506765.1:c.58G=
ENSP00000424570.1:p.Ala20=
ENST00000506974.5:c.70G=
ENSP00000425967.1:p.Ala24=
ENST00000507026.5:c.70G=
ENSP00000424993.1:p.Ala24=
NM_002495.2:c.70G=
NP_002486.1:p.Ala24=
XM_005248525.3:c.70G=
XP_005248582.1:p.Ala24=
XM_011543414.1:c.70G=
XP_011541716.1:p.Ala24=
NM_001318051.1:c.70G=
NP_001304980.1:p.Ala24=
NM_002495.3:c.70G=
NP_002486.1:p.Ala24=
NR_134473.1:n.100G=
NR_134474.1:n.100G=
NR_134475.1:n.100G=
XM_017009491.1:c.70G=
XP_016864980.1:p.Ala24=
NM_002495.4:c.70G=
MANE Select
NP_002486.1:p.Ala24=
NM_001318051.2:c.70G=
NP_001304980.1:p.Ala24=
NR_134473.2:n.94G=
NR_134474.2:n.94G=
NR_134475.2:n.94G=