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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186284154C= , CM000666.2:g.186284154C=
GRCh38
NC_000004.11:g.187205308C= , CM000666.1:g.187205308C=
GRCh37
NC_000004.10:g.187442302C=
NCBI36
NG_008051.1:g.23191C= , LRG_583:g.23191C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000403665.7:c.1198C=
MANE Select
ENSP00000384957.2:p.Pro400=
ENST00000264692.8:c.1036C=
ENSP00000264692.5:p.Pro346=
ENST00000403665.6:c.1198C=
ENSP00000384957.2:p.Pro400=
NM_000128.3:c.1198C= , LRG_583t1:c.1198C=
NP_000119.1:p.Pro400=
XM_005262821.2:c.1201C=
XP_005262878.1:p.Pro401=
XM_005262822.2:c.1201C=
XP_005262879.1:p.Pro401=
XM_005262823.2:c.931C=
XP_005262880.1:p.Pro311=
XM_005262824.1:c.1201C=
XP_005262881.1:p.Pro401=
XM_006714137.1:c.1153C=
XP_006714200.1:p.Pro385=
XR_938706.1:n.1606C=
XR_938707.1:n.1606C=
XM_005262821.4:c.1201C=
XP_005262878.1:p.Pro401=
XM_005262822.4:c.1201C=
XP_005262879.1:p.Pro401=
XM_005262823.4:c.931C=
XP_005262880.1:p.Pro311=
XM_006714137.3:c.1153C=
XP_006714200.1:p.Pro385=
XM_017007884.2:c.*2170C=
XP_016863373.1:n.*2170C=
XM_017007885.2:c.*66C=
XP_016863374.1:n.*66C=
XR_001741172.2:n.1672C=
NM_000128.4:c.1198C=
MANE Select
NP_000119.1:p.Pro400=