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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.127428556G= , CM000664.2:g.127428556G=
GRCh38
NC_000002.11:g.128186132G= , CM000664.1:g.128186132G=
GRCh37
NC_000002.10:g.127902602G=
NCBI36
NG_016323.1:g.15137G= , LRG_599:g.15137G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000234071.8:c.996G=
MANE Select
ENSP00000234071.4:p.Gln332=
ENST00000234071.7:c.996G=
ENSP00000234071.3:p.Gln332=
ENST00000402125.2:c.320G=
ENST00000409048.1:c.1098G=
ENSP00000386679.1:p.Gln366=
NM_000312.3:c.996G= , LRG_599t1:c.996G=
NP_000303.1:p.Gln332=
XM_005263715.3:c.1179G=
XP_005263772.1:p.Gln393=
XM_005263716.3:c.1161G=
XP_005263773.1:p.Gln387=
XM_005263717.3:c.1059G=
XP_005263774.1:p.Gln353=
XR_923313.1:n.1332-292C=
XM_005263717.4:c.1059G=
XP_005263774.1:p.Gln353=
XM_017004505.1:c.1239G=
XP_016859994.1:p.Gln413=
XM_024453002.1:c.1341G=
XP_024308770.1:p.Gln447=
XM_024453003.1:c.1281G=
XP_024308771.1:p.Gln427=
XM_024453004.1:c.1179G=
XP_024308772.1:p.Gln393=
XM_024453005.1:c.1161G=
XP_024308773.1:p.Gln387=
XM_024453006.1:c.1098G=
XP_024308774.1:p.Gln366=
XR_001739705.1:n.3607-292C=
XR_923313.2:n.4043-292C=
NM_000312.4:c.996G=
MANE Select
NP_000303.1:p.Gln332=
NM_001375602.1:c.1179G=
NP_001362531.1:p.Gln393=
NM_001375603.1:c.1161G=
NP_001362532.1:p.Gln387=
NM_001375604.1:c.1059G=
NP_001362533.1:p.Gln353=
NM_001375605.1:c.1098G=
NP_001362534.1:p.Gln366=
NM_001375606.1:c.1164G=
NP_001362535.1:p.Gln388=
NM_001375607.1:c.1182G=
NP_001362536.1:p.Gln394=
NM_001375608.1:c.939G=
NP_001362537.1:p.Gln313=
NM_001375609.1:c.972G=
NP_001362538.1:p.Gln324=
NM_001375610.1:c.990G=
NP_001362539.1:p.Gln330=
NM_001375611.1:c.996G=
NP_001362540.1:p.Gln332=
NM_001375613.1:c.996G=
NP_001362542.1:p.Gln332=