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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.159034605T>A , CM000669.2:g.159034605T>A
GRCh38
NC_000007.13:g.158827296T>A , CM000669.1:g.158827296T>A
GRCh37
NC_000007.12:g.158520057T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000262178.7:c.855A>T
MANE Select
ENSP00000262178.2:p.Arg285=
ENST00000262178.6:c.855A>T
ENSP00000262178.2:p.Arg285=
ENST00000377633.7:c.807A>T
ENSP00000366860.3:p.Arg269=
ENST00000402066.5:c.1278A>T
ENSP00000384497.1:p.Arg426=
NM_001304522.1:c.615A>T
NP_001291451.1:p.Arg205=
NM_001308259.1:c.807A>T
NP_001295188.1:p.Arg269=
NM_003382.4:c.855A>T
NP_003373.2:p.Arg285=
NR_130758.1:n.1041A>T
XM_005249561.2:c.930A>T
XP_005249618.1:p.Arg310=
XM_006716107.1:c.855A>T
XP_006716170.1:p.Arg285=
XM_006716108.2:c.666A>T
XP_006716171.1:p.Arg222=
XM_011516550.1:c.807A>T
XP_011514852.1:p.Arg269=
XM_011516552.1:c.441A>T
XP_011514854.1:p.Arg147=
XR_242047.2:n.1250A>T
XM_005249561.3:c.930A>T
XP_005249618.1:p.Arg310=
XM_006716107.2:c.855A>T
XP_006716170.1:p.Arg285=
XM_006716108.3:c.666A>T
XP_006716171.1:p.Arg222=
XM_011516550.2:c.807A>T
XP_011514852.1:p.Arg269=
XM_017012580.1:c.441A>T
XP_016868069.1:p.Arg147=
XM_024446914.1:c.930A>T
XP_024302682.1:p.Arg310=
XM_024446915.1:c.930A>T
XP_024302683.1:p.Arg310=
XM_024446916.1:c.855A>T
XP_024302684.1:p.Arg285=
XM_024446917.1:c.666A>T
XP_024302685.1:p.Arg222=
XM_024446918.1:c.441A>T
XP_024302686.1:p.Arg147=
NM_003382.5:c.855A>T
MANE Select
NP_003373.2:p.Arg285=
NM_001304522.2:c.615A>T
NP_001291451.1:p.Arg205=
NR_130758.2:n.951A>T