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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.68406678A>G , CM000673.2:g.68406678A>G
GRCh38
NC_000011.9:g.68174146A>G , CM000673.1:g.68174146A>G
GRCh37
NC_000011.8:g.67930722A>G
NCBI36
NG_015835.1:g.99039A>G
NG_015835.2:g.99039A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000294304.12:c.1956A>G
MANE Select
ENSP00000294304.6:p.Arg652=
ENST00000294304.11:c.1956A>G
ENSP00000294304.6:p.Arg652=
ENST00000529993.5:c.*562A>G
ENSP00000436652.1:n.*562A>G
NM_001291902.1:c.213A>G
NP_001278831.1:p.Arg71=
NM_002335.3:c.1956A>G
NP_002326.2:p.Arg652=
XM_005273994.2:c.1956A>G
XP_005274051.1:p.Arg652=
XM_011545029.1:c.1983A>G
XP_011543331.1:p.Arg661=
XM_011545030.1:c.1983A>G
XP_011543332.1:p.Arg661=
XM_011545031.1:c.1983A>G
XP_011543333.1:p.Arg661=
XR_949925.1:n.1998A>G
XR_949926.1:n.1998A>G
XM_017017735.1:c.213A>G
XP_016873224.1:p.Arg71=
XR_001747874.1:n.1998A>G
XR_949925.2:n.1998A>G
XR_949926.2:n.1998A>G
NM_002335.4:c.1956A>G
MANE Select
NP_002326.2:p.Arg652=
NM_001291902.2:c.213A>G
NP_001278831.1:p.Arg71=