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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.11274025T= , CM000663.2:g.11274025T=
GRCh38
NC_000001.10:g.11334082T= , CM000663.1:g.11334082T=
GRCh37
NC_000001.9:g.11256669T=
NCBI36
NG_009443.1:g.5828T=
NG_009443.2:g.5828T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000376810.6:c.494T=
MANE Select
ENSP00000366006.5:p.Phe165=
ENST00000376804.2:c.494T=
ENSP00000366000.1:p.Phe165=
ENST00000376810.5:c.494T=
ENSP00000366006.5:p.Phe165=
ENST00000483738.1:c.92T=
ENSP00000473453.1:p.Phe31=
ENST00000486588.6:c.137T=
ENSP00000473612.1:p.Phe46=
NM_013319.2:c.494T=
NP_037451.1:p.Phe165=
XM_006710590.2:c.494T=
XP_006710653.1:p.Phe165=
XM_011541304.1:c.494T=
XP_011539606.1:p.Phe165=
XR_946616.1:n.828T=
NM_001330349.1:c.494T=
NP_001317278.1:p.Phe165=
NM_001330350.1:c.494T=
NP_001317279.1:p.Phe165=
XR_946616.3:n.828T=
NM_001330349.2:c.494T=
NP_001317278.1:p.Phe165=
NM_001330350.2:c.494T=
NP_001317279.1:p.Phe165=
NM_013319.3:c.494T=
MANE Select
NP_037451.1:p.Phe165=