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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186284138T>G , CM000666.2:g.186284138T>G
GRCh38
NC_000004.11:g.187205292T>G , CM000666.1:g.187205292T>G
GRCh37
NC_000004.10:g.187442286T>G
NCBI36
NG_008051.1:g.23175T>G , LRG_583:g.23175T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000403665.7:c.1182T>G
MANE Select
ENSP00000384957.2:p.Ser394=
ENST00000264692.8:c.1020T>G
ENSP00000264692.5:p.Ser340=
ENST00000403665.6:c.1182T>G
ENSP00000384957.2:p.Ser394=
NM_000128.3:c.1182T>G , LRG_583t1:c.1182T>G
NP_000119.1:p.Ser394=
XM_005262821.2:c.1185T>G
XP_005262878.1:p.Ser395=
XM_005262822.2:c.1185T>G
XP_005262879.1:p.Ser395=
XM_005262823.2:c.915T>G
XP_005262880.1:p.Ser305=
XM_005262824.1:c.1185T>G
XP_005262881.1:p.Ser395=
XM_006714137.1:c.1137T>G
XP_006714200.1:p.Ser379=
XR_938706.1:n.1590T>G
XR_938707.1:n.1590T>G
XM_005262821.4:c.1185T>G
XP_005262878.1:p.Ser395=
XM_005262822.4:c.1185T>G
XP_005262879.1:p.Ser395=
XM_005262823.4:c.915T>G
XP_005262880.1:p.Ser305=
XM_006714137.3:c.1137T>G
XP_006714200.1:p.Ser379=
XM_017007884.2:c.*2154T>G
XP_016863373.1:n.*2154T>G
XM_017007885.2:c.*50T>G
XP_016863374.1:n.*50T>G
XR_001741172.2:n.1656T>G
NM_000128.4:c.1182T>G
MANE Select
NP_000119.1:p.Ser394=