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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186280495T>G , CM000666.2:g.186280495T>G
GRCh38
NC_000004.11:g.187201649T>G , CM000666.1:g.187201649T>G
GRCh37
NC_000004.10:g.187438643T>G
NCBI36
NG_008051.1:g.19532T>G , LRG_583:g.19532T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000403665.7:c.1050T>G
MANE Select
ENSP00000384957.2:p.Leu350=
ENST00000264692.8:c.888T>G
ENSP00000264692.5:p.Leu296=
ENST00000403665.6:c.1050T>G
ENSP00000384957.2:p.Leu350=
ENST00000452239.1:c.497T>G
NM_000128.3:c.1050T>G , LRG_583t1:c.1050T>G
NP_000119.1:p.Leu350=
XM_005262821.2:c.1053T>G
XP_005262878.1:p.Leu351=
XM_005262822.2:c.1053T>G
XP_005262879.1:p.Leu351=
XM_005262823.2:c.783T>G
XP_005262880.1:p.Leu261=
XM_005262824.1:c.1053T>G
XP_005262881.1:p.Leu351=
XM_006714137.1:c.1005T>G
XP_006714200.1:p.Leu335=
XR_938706.1:n.1405T>G
XR_938707.1:n.1405T>G
XM_005262821.4:c.1053T>G
XP_005262878.1:p.Leu351=
XM_005262822.4:c.1053T>G
XP_005262879.1:p.Leu351=
XM_005262823.4:c.783T>G
XP_005262880.1:p.Leu261=
XM_006714137.3:c.1005T>G
XP_006714200.1:p.Leu335=
XM_017007884.2:c.1053T>G
XP_016863373.1:p.Leu351=
XM_017007885.2:c.1053T>G
XP_016863374.1:p.Leu351=
XM_017007886.2:c.1050T>G
XP_016863375.1:p.Leu350=
XR_001741172.2:n.1471T>G
NM_000128.4:c.1050T>G
MANE Select
NP_000119.1:p.Leu350=