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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.127428544C= , CM000664.2:g.127428544C=
GRCh38
NC_000002.11:g.128186120C= , CM000664.1:g.128186120C=
GRCh37
NC_000002.10:g.127902590C=
NCBI36
NG_016323.1:g.15125C= , LRG_599:g.15125C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000234071.8:c.984C=
MANE Select
ENSP00000234071.4:p.Arg328=
ENST00000234071.7:c.984C=
ENSP00000234071.3:p.Arg328=
ENST00000402125.2:c.308C=
ENST00000409048.1:c.1086C=
ENSP00000386679.1:p.Arg362=
NM_000312.3:c.984C= , LRG_599t1:c.984C=
NP_000303.1:p.Arg328=
XM_005263715.3:c.1167C=
XP_005263772.1:p.Arg389=
XM_005263716.3:c.1149C=
XP_005263773.1:p.Arg383=
XM_005263717.3:c.1047C=
XP_005263774.1:p.Arg349=
XR_923313.1:n.1332-280G=
XM_005263717.4:c.1047C=
XP_005263774.1:p.Arg349=
XM_017004505.1:c.1227C=
XP_016859994.1:p.Arg409=
XM_024453002.1:c.1329C=
XP_024308770.1:p.Arg443=
XM_024453003.1:c.1269C=
XP_024308771.1:p.Arg423=
XM_024453004.1:c.1167C=
XP_024308772.1:p.Arg389=
XM_024453005.1:c.1149C=
XP_024308773.1:p.Arg383=
XM_024453006.1:c.1086C=
XP_024308774.1:p.Arg362=
XR_001739705.1:n.3607-280G=
XR_923313.2:n.4043-280G=
NM_000312.4:c.984C=
MANE Select
NP_000303.1:p.Arg328=
NM_001375602.1:c.1167C=
NP_001362531.1:p.Arg389=
NM_001375603.1:c.1149C=
NP_001362532.1:p.Arg383=
NM_001375604.1:c.1047C=
NP_001362533.1:p.Arg349=
NM_001375605.1:c.1086C=
NP_001362534.1:p.Arg362=
NM_001375606.1:c.1152C=
NP_001362535.1:p.Arg384=
NM_001375607.1:c.1170C=
NP_001362536.1:p.Arg390=
NM_001375608.1:c.927C=
NP_001362537.1:p.Arg309=
NM_001375609.1:c.960C=
NP_001362538.1:p.Arg320=
NM_001375610.1:c.978C=
NP_001362539.1:p.Arg326=
NM_001375611.1:c.984C=
NP_001362540.1:p.Arg328=
NM_001375613.1:c.984C=
NP_001362542.1:p.Arg328=