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Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.50635636C= , CM000685.2:g.50635636C=
GRCh38
NC_000023.10:g.50378636C= , CM000685.1:g.50378636C=
GRCh37
NC_000023.9:g.50395376C=
NCBI36
NG_011882.1:g.183409G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000376020.9:c.437G=
MANE Select
ENSP00000365188.2:p.Arg146=
ENST00000376020.8:c.437G=
ENSP00000365188.2:p.Arg146=
ENST00000289292.11:c.437G=
ENSP00000289292.7:p.Arg146=
ENST00000376020.6:c.437G=
ENSP00000365188.2:p.Arg146=
ENST00000460112.3:c.89G=
ENSP00000421450.1:p.Arg30=
NM_020717.3:c.437G=
NP_065768.2:p.Arg146=
NR_027121.1:n.463G=
XM_006724590.2:c.89G=
XP_006724653.1:p.Arg30=
XM_006724591.2:c.-38G=
XP_006724654.1:n.-38G=
XM_011530800.1:c.302G=
XP_011529102.1:p.Arg101=
XM_011530801.1:c.437G=
XP_011529103.1:p.Arg146=
XR_938367.1:n.555G=
XR_938368.1:n.555G=
XM_017029682.2:c.437G=
XP_016885171.1:p.Arg146=
XM_017029683.1:c.302G=
XP_016885172.1:p.Arg101=
XM_017029684.1:c.89G=
XP_016885173.1:p.Arg30=
XM_017029685.2:c.437G=
XP_016885174.1:p.Arg146=
XM_017029686.1:c.-38G=
XP_016885175.1:n.-38G=
XM_017029687.2:c.437G=
XP_016885176.1:p.Arg146=
XR_001755716.2:n.568G=
XR_001755717.2:n.568G=
XR_001755718.2:n.568G=
NM_020717.5:c.437G=
MANE Select
NP_065768.2:p.Arg146=
NR_027121.3:n.613G=
NR_172068.1:n.478G=
NR_172069.1:n.533G=
NR_172070.1:n.398G=