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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186284192G= , CM000666.2:g.186284192G=
GRCh38
NC_000004.11:g.187205346G= , CM000666.1:g.187205346G=
GRCh37
NC_000004.10:g.187442340G=
NCBI36
NG_008051.1:g.23229G= , LRG_583:g.23229G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000403665.7:c.1236G=
MANE Select
ENSP00000384957.2:p.Gln412=
ENST00000264692.8:c.1074G=
ENSP00000264692.5:p.Gln358=
ENST00000403665.6:c.1236G=
ENSP00000384957.2:p.Gln412=
NM_000128.3:c.1236G= , LRG_583t1:c.1236G=
NP_000119.1:p.Gln412=
XM_005262821.2:c.1239G=
XP_005262878.1:p.Gln413=
XM_005262822.2:c.1239G=
XP_005262879.1:p.Gln413=
XM_005262823.2:c.969G=
XP_005262880.1:p.Gln323=
XM_005262824.1:c.1239G=
XP_005262881.1:p.Gln413=
XM_006714137.1:c.1191G=
XP_006714200.1:p.Gln397=
XR_938706.1:n.1644G=
XR_938707.1:n.1644G=
XM_005262821.4:c.1239G=
XP_005262878.1:p.Gln413=
XM_005262822.4:c.1239G=
XP_005262879.1:p.Gln413=
XM_005262823.4:c.969G=
XP_005262880.1:p.Gln323=
XM_006714137.3:c.1191G=
XP_006714200.1:p.Gln397=
XR_001741172.2:n.1710G=
NM_000128.4:c.1236G=
MANE Select
NP_000119.1:p.Gln412=