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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186285744C= , CM000666.2:g.186285744C=
GRCh38
NC_000004.11:g.187206898C= , CM000666.1:g.187206898C=
GRCh37
NC_000004.10:g.187443892C=
NCBI36
NG_008051.1:g.24781C= , LRG_583:g.24781C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000403665.7:c.1411C=
MANE Select
ENSP00000384957.2:p.Gln471=
ENST00000264691.4:c.107C=
ENST00000264692.8:c.1249C=
ENSP00000264692.5:p.Gln417=
ENST00000403665.6:c.1411C=
ENSP00000384957.2:p.Gln471=
NM_000128.3:c.1411C= , LRG_583t1:c.1411C=
NP_000119.1:p.Gln471=
XM_005262821.2:c.1414C=
XP_005262878.1:p.Gln472=
XM_005262822.2:c.1414C=
XP_005262879.1:p.Gln472=
XM_005262823.2:c.1144C=
XP_005262880.1:p.Gln382=
XM_005262824.1:c.1414C=
XP_005262881.1:p.Gln472=
XM_006714137.1:c.1366C=
XP_006714200.1:p.Gln456=
XR_938706.1:n.1819C=
XR_938707.1:n.1819C=
XM_005262821.4:c.1414C=
XP_005262878.1:p.Gln472=
XM_005262822.4:c.1414C=
XP_005262879.1:p.Gln472=
XM_005262823.4:c.1144C=
XP_005262880.1:p.Gln382=
XM_006714137.3:c.1366C=
XP_006714200.1:p.Gln456=
XR_001741172.2:n.1885C=
NM_000128.4:c.1411C=
MANE Select
NP_000119.1:p.Gln471=