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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.68413717T>C , CM000673.2:g.68413717T>C
GRCh38
NC_000011.9:g.68181185T>C , CM000673.1:g.68181185T>C
GRCh37
NC_000011.8:g.67937761T>C
NCBI36
NG_015835.1:g.106078T>C
NG_015835.2:g.106078T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000294304.12:c.2532T>C
MANE Select
ENSP00000294304.6:p.Asp844=
ENST00000294304.11:c.2532T>C
ENSP00000294304.6:p.Asp844=
ENST00000529993.5:c.*1138T>C
ENSP00000436652.1:n.*1138T>C
NM_001291902.1:c.789T>C
NP_001278831.1:p.Asp263=
NM_002335.3:c.2532T>C
NP_002326.2:p.Asp844=
XM_005273994.2:c.2532T>C
XP_005274051.1:p.Asp844=
XM_011545029.1:c.2559T>C
XP_011543331.1:p.Asp853=
XM_011545030.1:c.2559T>C
XP_011543332.1:p.Asp853=
XM_011545031.1:c.2559T>C
XP_011543333.1:p.Asp853=
XR_949925.1:n.2574T>C
XR_949926.1:n.2574T>C
XM_017017735.1:c.789T>C
XP_016873224.1:p.Asp263=
XM_017017736.1:c.72T>C
XP_016873225.1:p.Asp24=
XR_001747874.1:n.2798T>C
XR_949925.2:n.2574T>C
XR_949926.2:n.2574T>C
NM_002335.4:c.2532T>C
MANE Select
NP_002326.2:p.Asp844=
NM_001291902.2:c.789T>C
NP_001278831.1:p.Asp263=