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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186284167C= , CM000666.2:g.186284167C=
GRCh38
NC_000004.11:g.187205321C= , CM000666.1:g.187205321C=
GRCh37
NC_000004.10:g.187442315C=
NCBI36
NG_008051.1:g.23204C= , LRG_583:g.23204C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000403665.7:c.1211C=
MANE Select
ENSP00000384957.2:p.Thr404=
ENST00000264692.8:c.1049C=
ENSP00000264692.5:p.Thr350=
ENST00000403665.6:c.1211C=
ENSP00000384957.2:p.Thr404=
NM_000128.3:c.1211C= , LRG_583t1:c.1211C=
NP_000119.1:p.Thr404=
XM_005262821.2:c.1214C=
XP_005262878.1:p.Thr405=
XM_005262822.2:c.1214C=
XP_005262879.1:p.Thr405=
XM_005262823.2:c.944C=
XP_005262880.1:p.Thr315=
XM_005262824.1:c.1214C=
XP_005262881.1:p.Thr405=
XM_006714137.1:c.1166C=
XP_006714200.1:p.Thr389=
XR_938706.1:n.1619C=
XR_938707.1:n.1619C=
XM_005262821.4:c.1214C=
XP_005262878.1:p.Thr405=
XM_005262822.4:c.1214C=
XP_005262879.1:p.Thr405=
XM_005262823.4:c.944C=
XP_005262880.1:p.Thr315=
XM_006714137.3:c.1166C=
XP_006714200.1:p.Thr389=
XM_017007884.2:c.*2183C=
XP_016863373.1:n.*2183C=
XR_001741172.2:n.1685C=
NM_000128.4:c.1211C=
MANE Select
NP_000119.1:p.Thr404=