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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.127428574C= , CM000664.2:g.127428574C=
GRCh38
NC_000002.11:g.128186150C= , CM000664.1:g.128186150C=
GRCh37
NC_000002.10:g.127902620C=
NCBI36
NG_016323.1:g.15155C= , LRG_599:g.15155C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000234071.8:c.1014C=
MANE Select
ENSP00000234071.4:p.Leu338=
ENST00000234071.7:c.1014C=
ENSP00000234071.3:p.Leu338=
ENST00000402125.2:c.338C=
ENST00000409048.1:c.1116C=
ENSP00000386679.1:p.Leu372=
NM_000312.3:c.1014C= , LRG_599t1:c.1014C=
NP_000303.1:p.Leu338=
XM_005263715.3:c.1197C=
XP_005263772.1:p.Leu399=
XM_005263716.3:c.1179C=
XP_005263773.1:p.Leu393=
XM_005263717.3:c.1077C=
XP_005263774.1:p.Leu359=
XR_923313.1:n.1332-310G=
XM_005263717.4:c.1077C=
XP_005263774.1:p.Leu359=
XM_017004505.1:c.1257C=
XP_016859994.1:p.Leu419=
XM_024453002.1:c.1359C=
XP_024308770.1:p.Leu453=
XM_024453003.1:c.1299C=
XP_024308771.1:p.Leu433=
XM_024453004.1:c.1197C=
XP_024308772.1:p.Leu399=
XM_024453005.1:c.1179C=
XP_024308773.1:p.Leu393=
XM_024453006.1:c.1116C=
XP_024308774.1:p.Leu372=
XR_001739705.1:n.3607-310G=
XR_923313.2:n.4043-310G=
NM_000312.4:c.1014C=
MANE Select
NP_000303.1:p.Leu338=
NM_001375602.1:c.1197C=
NP_001362531.1:p.Leu399=
NM_001375603.1:c.1179C=
NP_001362532.1:p.Leu393=
NM_001375604.1:c.1077C=
NP_001362533.1:p.Leu359=
NM_001375605.1:c.1116C=
NP_001362534.1:p.Leu372=
NM_001375606.1:c.1182C=
NP_001362535.1:p.Leu394=
NM_001375607.1:c.1200C=
NP_001362536.1:p.Leu400=
NM_001375608.1:c.957C=
NP_001362537.1:p.Leu319=
NM_001375609.1:c.990C=
NP_001362538.1:p.Leu330=
NM_001375610.1:c.1008C=
NP_001362539.1:p.Leu336=
NM_001375611.1:c.1014C=
NP_001362540.1:p.Leu338=
NM_001375613.1:c.1014C=
NP_001362542.1:p.Leu338=