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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.68363846C>G , CM000673.2:g.68363846C>G
GRCh38
NC_000011.9:g.68131314C>G , CM000673.1:g.68131314C>G
GRCh37
NC_000011.8:g.67887890C>G
NCBI36
NG_015835.1:g.56207C>G
NG_015835.2:g.56207C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000294304.12:c.786C>G
MANE Select
ENSP00000294304.6:p.Ala262=
ENST00000294304.11:c.786C>G
ENSP00000294304.6:p.Ala262=
ENST00000529993.5:c.786C>G
ENSP00000436652.1:p.Ala262=
NM_001291902.1:c.-980C>G
NP_001278831.1:n.-980C>G
NM_002335.3:c.786C>G
NP_002326.2:p.Ala262=
XM_005273994.2:c.786C>G
XP_005274051.1:p.Ala262=
XM_011545029.1:c.813C>G
XP_011543331.1:p.Ala271=
XM_011545030.1:c.813C>G
XP_011543332.1:p.Ala271=
XM_011545031.1:c.813C>G
XP_011543333.1:p.Ala271=
XR_949925.1:n.828C>G
XR_949926.1:n.828C>G
XR_001747874.1:n.828C>G
XR_949925.2:n.828C>G
XR_949926.2:n.828C>G
NM_002335.4:c.786C>G
MANE Select
NP_002326.2:p.Ala262=
NM_001291902.2:c.-980C>G
NP_001278831.1:n.-980C>G