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Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.44934414A>G , CM000676.2:g.44934414A>G
GRCh38
NC_000014.8:g.45403617A>G , CM000676.1:g.45403617A>G
GRCh37
NC_000014.7:g.44473367A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000396128.9:c.1044T>C
MANE Select
ENSP00000379434.4:p.Thr348=
ENST00000355081.3:c.1086T>C
ENSP00000347193.2:p.Thr362=
ENST00000396128.8:c.1044T>C
ENSP00000379434.3:p.Thr348=
NM_001308112.1:c.1086T>C
NP_001295041.1:p.Thr362=
NM_017658.3:c.1044T>C
NP_060128.2:p.Thr348=
NM_017658.4:c.1044T>C
NP_060128.2:p.Thr348=
XM_005267770.2:c.1044T>C
XP_005267827.1:p.Thr348=
XM_011536847.1:c.1044T>C
XP_011535149.1:p.Thr348=
XM_011536848.1:c.1044T>C
XP_011535150.1:p.Thr348=
XM_011536849.1:c.1086T>C
XP_011535151.1:p.Thr362=
XM_005267770.4:c.1044T>C
XP_005267827.1:p.Thr348=
XM_011536847.3:c.1044T>C
XP_011535149.1:p.Thr348=
XM_011536849.2:c.1086T>C
XP_011535151.1:p.Thr362=
XM_024449635.1:c.1044T>C
XP_024305403.1:p.Thr348=
NM_001308112.2:c.1086T>C
NP_001295041.1:p.Thr362=
NM_017658.5:c.1044T>C
MANE Select
NP_060128.2:p.Thr348=