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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186285800A>T , CM000666.2:g.186285800A>T
GRCh38
NC_000004.11:g.187206954A>T , CM000666.1:g.187206954A>T
GRCh37
NC_000004.10:g.187443948A>T
NCBI36
NG_008051.1:g.24837A>T , LRG_583:g.24837A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000403665.7:c.1467A>T
MANE Select
ENSP00000384957.2:p.Thr489=
ENST00000264691.4:c.163A>T
ENST00000264692.8:c.1305A>T
ENSP00000264692.5:p.Thr435=
ENST00000403665.6:c.1467A>T
ENSP00000384957.2:p.Thr489=
NM_000128.3:c.1467A>T , LRG_583t1:c.1467A>T
NP_000119.1:p.Thr489=
XM_005262821.2:c.1470A>T
XP_005262878.1:p.Thr490=
XM_005262822.2:c.1470A>T
XP_005262879.1:p.Thr490=
XM_005262823.2:c.1200A>T
XP_005262880.1:p.Thr400=
XM_005262824.1:c.1470A>T
XP_005262881.1:p.Thr490=
XM_006714137.1:c.1422A>T
XP_006714200.1:p.Thr474=
XR_938706.1:n.1875A>T
XR_938707.1:n.1875A>T
XM_005262821.4:c.1470A>T
XP_005262878.1:p.Thr490=
XM_005262822.4:c.1470A>T
XP_005262879.1:p.Thr490=
XM_005262823.4:c.1200A>T
XP_005262880.1:p.Thr400=
XM_006714137.3:c.1422A>T
XP_006714200.1:p.Thr474=
XR_001741172.2:n.1941A>T
NM_000128.4:c.1467A>T
MANE Select
NP_000119.1:p.Thr489=