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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186284198C= , CM000666.2:g.186284198C=
GRCh38
NC_000004.11:g.187205352C= , CM000666.1:g.187205352C=
GRCh37
NC_000004.10:g.187442346C=
NCBI36
NG_008051.1:g.23235C= , LRG_583:g.23235C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000403665.7:c.1242C=
MANE Select
ENSP00000384957.2:p.His414=
ENST00000264692.8:c.1080C=
ENSP00000264692.5:p.His360=
ENST00000403665.6:c.1242C=
ENSP00000384957.2:p.His414=
NM_000128.3:c.1242C= , LRG_583t1:c.1242C=
NP_000119.1:p.His414=
XM_005262821.2:c.1245C=
XP_005262878.1:p.His415=
XM_005262822.2:c.1245C=
XP_005262879.1:p.His415=
XM_005262823.2:c.975C=
XP_005262880.1:p.His325=
XM_005262824.1:c.1245C=
XP_005262881.1:p.His415=
XM_006714137.1:c.1197C=
XP_006714200.1:p.His399=
XR_938706.1:n.1650C=
XR_938707.1:n.1650C=
XM_005262821.4:c.1245C=
XP_005262878.1:p.His415=
XM_005262822.4:c.1245C=
XP_005262879.1:p.His415=
XM_005262823.4:c.975C=
XP_005262880.1:p.His325=
XM_006714137.3:c.1197C=
XP_006714200.1:p.His399=
XR_001741172.2:n.1716C=
NM_000128.4:c.1242C=
MANE Select
NP_000119.1:p.His414=