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Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.80025708C>A , CM000685.2:g.80025708C>A
GRCh38
NC_000023.10:g.79281207C>A , CM000685.1:g.79281207C>A
GRCh37
NC_000023.9:g.79167863C>A
NCBI36
NG_008998.1:g.15953C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000373296.8:c.564C>A
MANE Select
ENSP00000362393.3:p.Thr188=
ENST00000373294.8:c.564C>A
ENSP00000362390.5:p.Thr188=
ENST00000373296.7:c.564C>A
ENSP00000362393.3:p.Thr188=
ENST00000626498.2:c.*176C>A
ENSP00000487527.1:n.*176C>A
ENST00000626877.1:n.443C>A
NM_001109878.1:c.564C>A
NP_001103348.1:p.Thr188=
NM_001109879.1:c.204C>A
NP_001103349.1:p.Thr68=
NM_001303475.1:c.204C>A
NP_001290404.1:p.Thr68=
NM_016954.2:c.564C>A
NP_058650.1:p.Thr188=
XM_005262136.2:c.567C>A
XP_005262193.1:p.Thr189=
XM_006724657.2:c.567C>A
XP_006724720.1:p.Thr189=
XM_011530972.1:c.204C>A
XP_011529274.1:p.Thr68=
NM_001109878.2:c.564C>A
MANE Select
NP_001103348.1:p.Thr188=
NM_001109879.2:c.204C>A
NP_001103349.1:p.Thr68=