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Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.141647492A= , CM000667.2:g.141647492A=
GRCh38
NC_000005.9:g.141027059A= , CM000667.1:g.141027059A=
GRCh37
NC_000005.8:g.141007243A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000435817.7:c.734T=
MANE Select
ENSP00000399259.2:p.Leu245=
ENST00000435817.6:c.734T=
ENSP00000399259.2:p.Leu245=
ENST00000522126.5:c.506T=
ENSP00000427796.1:p.Leu169=
ENST00000522386.1:n.340T=
ENST00000522763.5:n.38T=
ENST00000522783.5:c.728T=
ENSP00000428677.1:p.Leu243=
NM_033449.2:c.734T=
NP_258260.1:p.Leu245=
XM_005268524.3:c.728T=
XP_005268581.1:p.Leu243=
XM_006714803.2:c.605T=
XP_006714866.1:p.Leu202=
XM_011537698.1:c.734T=
XP_011536000.1:p.Leu245=
XM_011537699.1:c.734T=
XP_011536001.1:p.Leu245=
XM_011537700.1:c.734T=
XP_011536002.1:p.Leu245=
XM_011537701.1:c.734T=
XP_011536003.1:p.Leu245=
XR_427781.2:n.788T=
XR_944338.1:n.794T=
XR_944339.1:n.794T=
XM_005268524.5:c.728T=
XP_005268581.1:p.Leu243=
XM_006714803.4:c.605T=
XP_006714866.1:p.Leu202=
XM_011537698.3:c.734T=
XP_011536000.1:p.Leu245=
XM_011537700.3:c.734T=
XP_011536002.1:p.Leu245=
XM_011537701.3:c.734T=
XP_011536003.1:p.Leu245=
XM_017010013.2:c.734T=
XP_016865502.1:p.Leu245=
XR_002956197.1:n.730T=
XR_427781.4:n.730T=
XR_944338.3:n.809T=
XR_944339.3:n.809T=
NM_033449.3:c.734T=
MANE Select
NP_258260.1:p.Leu245=