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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.118924004C= , CM000668.2:g.118924004C=
GRCh38
NC_000006.11:g.119245169C= , CM000668.1:g.119245169C=
GRCh37
NC_000006.10:g.119286868C=
NCBI36
NG_041822.1:g.16159G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000619706.5:c.428G=
MANE Select
ENSP00000480469.1:p.Arg143=
ENST00000316068.7:c.428G=
ENSP00000312870.3:p.Arg143=
ENST00000316316.10:c.428G=
ENSP00000314505.5:p.Arg143=
ENST00000425154.6:c.428G=
ENSP00000394776.2:p.Arg143=
ENST00000436788.2:n.49G=
ENST00000619706.4:c.428G=
ENSP00000480469.1:p.Arg143=
NM_017696.2:c.428G=
NP_060166.2:p.Arg143=
NM_153255.4:c.428G=
NP_694987.1:p.Arg143=
NM_001378356.1:c.428G=
NP_001365285.1:p.Arg143=
NM_001378357.1:c.428G=
NP_001365286.1:p.Arg143=
NM_001378358.1:c.428G=
NP_001365287.1:p.Arg143=
NM_001378359.1:c.428G=
NP_001365288.1:p.Arg143=
NM_001378360.1:c.428G=
NP_001365289.1:p.Arg143=
NM_001378361.1:c.230G=
NP_001365290.1:p.Arg77=
NM_001378362.1:c.230G=
NP_001365291.1:p.Arg77=
NM_001378363.1:c.230G=
NP_001365292.1:p.Arg77=
NM_001378364.1:c.428G=
NP_001365293.1:p.Arg143=
NM_001378365.1:c.428G=
NP_001365294.1:p.Arg143=
NM_001378366.1:c.428G=
NP_001365295.1:p.Arg143=
NM_001378367.1:c.230G=
NP_001365296.1:p.Arg77=
NM_001378368.1:c.428G=
NP_001365297.1:p.Arg143=
NM_001378369.1:c.428G=
NP_001365298.1:p.Arg143=
NM_001378370.1:c.230G=
NP_001365299.1:p.Arg77=
NM_001378371.1:c.428G=
NP_001365300.1:p.Arg143=
NM_001378372.1:c.230G=
NP_001365301.1:p.Arg77=
NM_017696.3:c.428G=
MANE Select
NP_060166.2:p.Arg143=
NM_153255.5:c.428G=
NP_694987.1:p.Arg143=
NR_165493.1:n.712G=
NR_165494.1:n.846G=