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Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.6495773G>A , CM000681.2:g.6495773G>A
GRCh38
NC_000019.9:g.6495784G>A , CM000681.1:g.6495784G>A
GRCh37
NC_000019.8:g.6446784G>A
NCBI36
NG_033896.1:g.12076C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264071.7:c.726C>T
MANE Select
ENSP00000264071.1:p.Phe242=
ENST00000264071.6:c.726C>T
ENSP00000264071.1:p.Phe242=
ENST00000540257.5:c.726C>T
ENSP00000443590.1:p.Phe242=
ENST00000594276.5:c.414C>T
ENSP00000472481.1:p.Phe138=
NM_001289123.1:c.879C>T
NP_001276052.1:p.Phe293=
NM_001289127.1:c.861C>T
NP_001276056.1:p.Phe287=
NM_001289129.1:c.726C>T
NP_001276058.1:p.Phe242=
NM_001289130.1:c.510C>T
NP_001276059.1:p.Phe170=
NM_001289131.1:c.510C>T
NP_001276060.1:p.Phe170=
NM_006087.3:c.726C>T
NP_006078.2:p.Phe242=
NM_006087.4:c.726C>T
MANE Select
NP_006078.2:p.Phe242=
NM_001289123.2:c.879C>T
NP_001276052.1:p.Phe293=
NM_001289127.2:c.861C>T
NP_001276056.1:p.Phe287=
NM_001289129.2:c.726C>T
NP_001276058.1:p.Phe242=
NM_001289130.2:c.510C>T
NP_001276059.1:p.Phe170=
NM_001289131.2:c.510C>T
NP_001276060.1:p.Phe170=