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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.117147657A= , CM000663.2:g.117147657A=
GRCh38
NC_000001.10:g.117690279A= , CM000663.1:g.117690279A=
GRCh37
NC_000001.9:g.117491802A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000369458.8:c.*1T=
MANE Select
ENSP00000358470.3:n.*1T=
ENST00000328189.7:c.*1T=
ENSP00000328168.3:n.*1T=
ENST00000359008.8:c.*1T=
ENSP00000351899.4:n.*1T=
ENST00000369458.7:c.*1T=
ENSP00000358470.3:n.*1T=
ENST00000539893.5:c.*1T=
ENSP00000444724.1:n.*1T=
NM_001253849.1:c.*1T=
NP_001240778.1:n.*1T=
NM_001253850.1:c.*1T=
NP_001240779.1:n.*1T=
NM_024626.3:c.*1T=
NP_078902.2:n.*1T=
NR_045603.1:n.1045T=
NR_045604.1:n.749T=
XM_011542143.1:c.*1T=
XP_011540445.1:n.*1T=
XM_011542144.1:c.*1T=
XP_011540446.1:n.*1T=
XM_011542145.1:c.*1T=
XP_011540447.1:n.*1T=
XM_011542143.2:c.*1T=
XP_011540445.2:n.*1T=
XM_017002335.2:c.*1T=
XP_016857824.1:n.*1T=
NM_024626.4:c.*1T=
MANE Select
NP_078902.2:n.*1T=
NR_045603.2:n.1012T=
NR_045604.2:n.716T=
NM_001253849.2:c.*1T=
NP_001240778.1:n.*1T=
NM_001253850.2:c.*1T=
NP_001240779.1:n.*1T=