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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.68406681C>T , CM000673.2:g.68406681C>T
GRCh38
NC_000011.9:g.68174149C>T , CM000673.1:g.68174149C>T
GRCh37
NC_000011.8:g.67930725C>T
NCBI36
NG_015835.1:g.99042C>T
NG_015835.2:g.99042C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000294304.12:c.1959C>T
MANE Select
ENSP00000294304.6:p.Ala653=
ENST00000294304.11:c.1959C>T
ENSP00000294304.6:p.Ala653=
ENST00000529993.5:c.*565C>T
ENSP00000436652.1:n.*565C>T
NM_001291902.1:c.216C>T
NP_001278831.1:p.Ala72=
NM_002335.3:c.1959C>T
NP_002326.2:p.Ala653=
XM_005273994.2:c.1959C>T
XP_005274051.1:p.Ala653=
XM_011545029.1:c.1986C>T
XP_011543331.1:p.Ala662=
XM_011545030.1:c.1986C>T
XP_011543332.1:p.Ala662=
XM_011545031.1:c.1986C>T
XP_011543333.1:p.Ala662=
XR_949925.1:n.2001C>T
XR_949926.1:n.2001C>T
XM_017017735.1:c.216C>T
XP_016873224.1:p.Ala72=
XR_001747874.1:n.2001C>T
XR_949925.2:n.2001C>T
XR_949926.2:n.2001C>T
NM_002335.4:c.1959C>T
MANE Select
NP_002326.2:p.Ala653=
NM_001291902.2:c.216C>T
NP_001278831.1:p.Ala72=