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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.127426144C= , CM000664.2:g.127426144C=
GRCh38
NC_000002.11:g.128183720C= , CM000664.1:g.128183720C=
GRCh37
NC_000002.10:g.127900190C=
NCBI36
NG_016323.1:g.12725C= , LRG_599:g.12725C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000234071.8:c.595C=
MANE Select
ENSP00000234071.4:p.Arg199=
ENST00000234071.7:c.595C=
ENSP00000234071.3:p.Arg199=
ENST00000402125.2:c.121-2213C=
ENST00000409048.1:c.697C=
ENSP00000386679.1:p.Arg233=
ENST00000464089.1:n.181C=
NM_000312.3:c.595C= , LRG_599t1:c.595C=
NP_000303.1:p.Arg199=
XM_005263715.3:c.778C=
XP_005263772.1:p.Arg260=
XM_005263716.3:c.760C=
XP_005263773.1:p.Arg254=
XM_005263717.3:c.658C=
XP_005263774.1:p.Arg220=
XM_005263717.4:c.658C=
XP_005263774.1:p.Arg220=
XM_017004505.1:c.838C=
XP_016859994.1:p.Arg280=
XM_024453002.1:c.940C=
XP_024308770.1:p.Arg314=
XM_024453003.1:c.880C=
XP_024308771.1:p.Arg294=
XM_024453004.1:c.778C=
XP_024308772.1:p.Arg260=
XM_024453005.1:c.760C=
XP_024308773.1:p.Arg254=
XM_024453006.1:c.697C=
XP_024308774.1:p.Arg233=
XR_923313.2:n.4441G=
NM_000312.4:c.595C=
MANE Select
NP_000303.1:p.Arg199=
NM_001375602.1:c.778C=
NP_001362531.1:p.Arg260=
NM_001375603.1:c.760C=
NP_001362532.1:p.Arg254=
NM_001375604.1:c.658C=
NP_001362533.1:p.Arg220=
NM_001375605.1:c.697C=
NP_001362534.1:p.Arg233=
NM_001375606.1:c.763C=
NP_001362535.1:p.Arg255=
NM_001375607.1:c.781C=
NP_001362536.1:p.Arg261=
NM_001375608.1:c.538C=
NP_001362537.1:p.Arg180=
NM_001375609.1:c.571C=
NP_001362538.1:p.Arg191=
NM_001375610.1:c.589C=
NP_001362539.1:p.Arg197=
NM_001375611.1:c.595C=
NP_001362540.1:p.Arg199=
NM_001375613.1:c.595C=
NP_001362542.1:p.Arg199=