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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186284195A= , CM000666.2:g.186284195A=
GRCh38
NC_000004.11:g.187205349A= , CM000666.1:g.187205349A=
GRCh37
NC_000004.10:g.187442343A=
NCBI36
NG_008051.1:g.23232A= , LRG_583:g.23232A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000403665.7:c.1239A=
MANE Select
ENSP00000384957.2:p.Arg413=
ENST00000264692.8:c.1077A=
ENSP00000264692.5:p.Arg359=
ENST00000403665.6:c.1239A=
ENSP00000384957.2:p.Arg413=
NM_000128.3:c.1239A= , LRG_583t1:c.1239A=
NP_000119.1:p.Arg413=
XM_005262821.2:c.1242A=
XP_005262878.1:p.Arg414=
XM_005262822.2:c.1242A=
XP_005262879.1:p.Arg414=
XM_005262823.2:c.972A=
XP_005262880.1:p.Arg324=
XM_005262824.1:c.1242A=
XP_005262881.1:p.Arg414=
XM_006714137.1:c.1194A=
XP_006714200.1:p.Arg398=
XR_938706.1:n.1647A=
XR_938707.1:n.1647A=
XM_005262821.4:c.1242A=
XP_005262878.1:p.Arg414=
XM_005262822.4:c.1242A=
XP_005262879.1:p.Arg414=
XM_005262823.4:c.972A=
XP_005262880.1:p.Arg324=
XM_006714137.3:c.1194A=
XP_006714200.1:p.Arg398=
XR_001741172.2:n.1713A=
NM_000128.4:c.1239A=
MANE Select
NP_000119.1:p.Arg413=