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Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.50630743C= , CM000682.2:g.50630743C=
GRCh38
NC_000020.10:g.49247280C= , CM000682.1:g.49247280C=
GRCh37
NC_000020.9:g.48680687C=
NCBI36
NG_034040.1:g.65788G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000327979.8:c.117G=
MANE Select
ENSP00000332663.3:p.Arg39=
ENST00000045083.6:c.105G=
ENSP00000045083.2:p.Arg35=
ENST00000327979.6:c.105G=
ENSP00000332663.2:p.Arg35=
ENST00000462493.1:n.423G=
NM_001290268.1:c.117G=
NP_001277197.1:p.Arg39=
NM_080829.3:c.105G=
NP_543019.2:p.Arg35=
NR_110890.1:n.704G=
XM_005260294.3:c.117G=
XP_005260351.1:p.Arg39=
XM_006723713.2:c.117G=
XP_006723776.1:p.Arg39=
XM_011528578.1:c.117G=
XP_011526880.1:p.Arg39=
XM_011528579.1:c.105G=
XP_011526881.1:p.Arg35=
XM_011528580.1:c.105G=
XP_011526882.1:p.Arg35=
XM_011528581.1:c.105G=
XP_011526883.1:p.Arg35=
XM_011528583.1:c.117G=
XP_011526885.1:p.Arg39=
XM_011528584.1:c.117G=
XP_011526886.1:p.Arg39=
XM_011528586.1:c.117G=
XP_011526888.1:p.Arg39=
XR_936505.1:n.588G=
XR_936506.1:n.589G=
XM_006723713.4:c.117G=
XP_006723776.1:p.Arg39=
XM_011528578.2:c.117G=
XP_011526880.1:p.Arg39=
XM_011528579.2:c.105G=
XP_011526881.1:p.Arg35=
XM_011528580.2:c.105G=
XP_011526882.1:p.Arg35=
XM_011528581.2:c.105G=
XP_011526883.1:p.Arg35=
XM_011528584.3:c.117G=
XP_011526886.1:p.Arg39=
XM_011528586.2:c.117G=
XP_011526888.1:p.Arg39=
XM_017027682.2:c.117G=
XP_016883171.1:p.Arg39=
XR_001754183.1:n.581G=
XR_936505.2:n.581G=
XR_936506.3:n.582G=
NM_001290268.2:c.117G=
MANE Select
NP_001277197.1:p.Arg39=
NR_110890.2:n.716G=
NM_080829.4:c.105G=
NP_543019.2:p.Arg35=