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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186285674C>A , CM000666.2:g.186285674C>A
GRCh38
NC_000004.11:g.187206828C>A , CM000666.1:g.187206828C>A
GRCh37
NC_000004.10:g.187443822C>A
NCBI36
NG_008051.1:g.24711C>A , LRG_583:g.24711C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000403665.7:c.1341C>A
MANE Select
ENSP00000384957.2:p.Gly447=
ENST00000264691.4:c.37C>A
ENST00000264692.8:c.1179C>A
ENSP00000264692.5:p.Gly393=
ENST00000403665.6:c.1341C>A
ENSP00000384957.2:p.Gly447=
NM_000128.3:c.1341C>A , LRG_583t1:c.1341C>A
NP_000119.1:p.Gly447=
XM_005262821.2:c.1344C>A
XP_005262878.1:p.Gly448=
XM_005262822.2:c.1344C>A
XP_005262879.1:p.Gly448=
XM_005262823.2:c.1074C>A
XP_005262880.1:p.Gly358=
XM_005262824.1:c.1344C>A
XP_005262881.1:p.Gly448=
XM_006714137.1:c.1296C>A
XP_006714200.1:p.Gly432=
XR_938706.1:n.1749C>A
XR_938707.1:n.1749C>A
XM_005262821.4:c.1344C>A
XP_005262878.1:p.Gly448=
XM_005262822.4:c.1344C>A
XP_005262879.1:p.Gly448=
XM_005262823.4:c.1074C>A
XP_005262880.1:p.Gly358=
XM_006714137.3:c.1296C>A
XP_006714200.1:p.Gly432=
XR_001741172.2:n.1815C>A
NM_000128.4:c.1341C>A
MANE Select
NP_000119.1:p.Gly447=