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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.127428359G= , CM000664.2:g.127428359G=
GRCh38
NC_000002.11:g.128185935G= , CM000664.1:g.128185935G=
GRCh37
NC_000002.10:g.127902405G=
NCBI36
NG_016323.1:g.14940G= , LRG_599:g.14940G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000234071.8:c.799G=
MANE Select
ENSP00000234071.4:p.Glu267=
ENST00000234071.7:c.799G=
ENSP00000234071.3:p.Glu267=
ENST00000402125.2:c.123G=
ENST00000409048.1:c.901G=
ENSP00000386679.1:p.Glu301=
NM_000312.3:c.799G= , LRG_599t1:c.799G=
NP_000303.1:p.Glu267=
XM_005263715.3:c.982G=
XP_005263772.1:p.Glu328=
XM_005263716.3:c.964G=
XP_005263773.1:p.Glu322=
XM_005263717.3:c.862G=
XP_005263774.1:p.Glu288=
XR_923313.1:n.1332-95C=
XM_005263717.4:c.862G=
XP_005263774.1:p.Glu288=
XM_017004505.1:c.1042G=
XP_016859994.1:p.Glu348=
XM_024453002.1:c.1144G=
XP_024308770.1:p.Glu382=
XM_024453003.1:c.1084G=
XP_024308771.1:p.Glu362=
XM_024453004.1:c.982G=
XP_024308772.1:p.Glu328=
XM_024453005.1:c.964G=
XP_024308773.1:p.Glu322=
XM_024453006.1:c.901G=
XP_024308774.1:p.Glu301=
XR_001739705.1:n.3607-95C=
XR_923313.2:n.4043-95C=
NM_000312.4:c.799G=
MANE Select
NP_000303.1:p.Glu267=
NM_001375602.1:c.982G=
NP_001362531.1:p.Glu328=
NM_001375603.1:c.964G=
NP_001362532.1:p.Glu322=
NM_001375604.1:c.862G=
NP_001362533.1:p.Glu288=
NM_001375605.1:c.901G=
NP_001362534.1:p.Glu301=
NM_001375606.1:c.967G=
NP_001362535.1:p.Glu323=
NM_001375607.1:c.985G=
NP_001362536.1:p.Glu329=
NM_001375608.1:c.742G=
NP_001362537.1:p.Glu248=
NM_001375609.1:c.775G=
NP_001362538.1:p.Glu259=
NM_001375610.1:c.793G=
NP_001362539.1:p.Glu265=
NM_001375611.1:c.799G=
NP_001362540.1:p.Glu267=
NM_001375613.1:c.799G=
NP_001362542.1:p.Glu267=