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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.68406687C>T , CM000673.2:g.68406687C>T
GRCh38
NC_000011.9:g.68174155C>T , CM000673.1:g.68174155C>T
GRCh37
NC_000011.8:g.67930731C>T
NCBI36
NG_015835.1:g.99048C>T
NG_015835.2:g.99048C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000294304.12:c.1965C>T
MANE Select
ENSP00000294304.6:p.Ile655=
ENST00000294304.11:c.1965C>T
ENSP00000294304.6:p.Ile655=
ENST00000529993.5:c.*571C>T
ENSP00000436652.1:n.*571C>T
NM_001291902.1:c.222C>T
NP_001278831.1:p.Ile74=
NM_002335.3:c.1965C>T
NP_002326.2:p.Ile655=
XM_005273994.2:c.1965C>T
XP_005274051.1:p.Ile655=
XM_011545029.1:c.1992C>T
XP_011543331.1:p.Ile664=
XM_011545030.1:c.1992C>T
XP_011543332.1:p.Ile664=
XM_011545031.1:c.1992C>T
XP_011543333.1:p.Ile664=
XR_949925.1:n.2007C>T
XR_949926.1:n.2007C>T
XM_017017735.1:c.222C>T
XP_016873224.1:p.Ile74=
XR_001747874.1:n.2007C>T
XR_949925.2:n.2007C>T
XR_949926.2:n.2007C>T
NM_002335.4:c.1965C>T
MANE Select
NP_002326.2:p.Ile655=
NM_001291902.2:c.222C>T
NP_001278831.1:p.Ile74=