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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.32435347A= , CM000673.2:g.32435347A=
GRCh38
NC_000011.9:g.32456893A= , CM000673.1:g.32456893A=
GRCh37
NC_000011.8:g.32413469A=
NCBI36
NG_009272.1:g.5195T= , LRG_525:g.5195T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000332351.9:c.14T=
ENSP00000331327.5:p.Leu5=
ENST00000379077.9:c.14T=
ENSP00000368368.5:p.Leu5=
ENST00000448076.9:c.14T=
ENSP00000413452.5:p.Leu5=
ENST00000452863.10:c.14T=
MANE Select
ENSP00000415516.5:p.Leu5=
ENST00000639563.3:c.14T=
ENSP00000492269.3:p.Leu5=
ENST00000332351.7:c.-2T=
ENSP00000331327.3:n.-2T=
ENST00000379077.7:c.-2T=
ENSP00000368368.3:n.-2T=
ENST00000448076.7:c.-2T=
ENSP00000413452.3:n.-2T=
NM_000378.4:c.-2T=
NP_000369.3:n.-2T=
NM_024424.3:c.-2T=
NP_077742.2:n.-2T=
NM_024426.4:c.-2T=
NP_077744.3:n.-2T=
NM_000378.5:c.14T=
NP_000369.4:p.Leu5=
NM_024424.4:c.14T=
NP_077742.3:p.Leu5=
NM_024426.5:c.14T=
NP_077744.4:p.Leu5=
NR_160306.1:n.193T=
NM_000378.6:c.14T=
NP_000369.4:p.Leu5=
NM_024424.5:c.14T=
NP_077742.3:p.Leu5=
NM_024426.6:c.14T=
MANE Select
NP_077744.4:p.Leu5=