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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186280481T= , CM000666.2:g.186280481T=
GRCh38
NC_000004.11:g.187201635T= , CM000666.1:g.187201635T=
GRCh37
NC_000004.10:g.187438629T=
NCBI36
NG_008051.1:g.19518T= , LRG_583:g.19518T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000403665.7:c.1036T=
MANE Select
ENSP00000384957.2:p.Cys346=
ENST00000264692.8:c.874T=
ENSP00000264692.5:p.Cys292=
ENST00000403665.6:c.1036T=
ENSP00000384957.2:p.Cys346=
ENST00000452239.1:c.483T=
NM_000128.3:c.1036T= , LRG_583t1:c.1036T=
NP_000119.1:p.Cys346=
XM_005262821.2:c.1039T=
XP_005262878.1:p.Cys347=
XM_005262822.2:c.1039T=
XP_005262879.1:p.Cys347=
XM_005262823.2:c.769T=
XP_005262880.1:p.Cys257=
XM_005262824.1:c.1039T=
XP_005262881.1:p.Cys347=
XM_006714137.1:c.991T=
XP_006714200.1:p.Cys331=
XR_938706.1:n.1391T=
XR_938707.1:n.1391T=
XM_005262821.4:c.1039T=
XP_005262878.1:p.Cys347=
XM_005262822.4:c.1039T=
XP_005262879.1:p.Cys347=
XM_005262823.4:c.769T=
XP_005262880.1:p.Cys257=
XM_006714137.3:c.991T=
XP_006714200.1:p.Cys331=
XM_017007884.2:c.1039T=
XP_016863373.1:p.Cys347=
XM_017007885.2:c.1039T=
XP_016863374.1:p.Cys347=
XM_017007886.2:c.1036T=
XP_016863375.1:p.Cys346=
XR_001741172.2:n.1457T=
NM_000128.4:c.1036T=
MANE Select
NP_000119.1:p.Cys346=