" /> HBB NP_000509.1:p.E7K - CISMeF





Preferred Label : HBB NP_000509.1:p.E7K;

NCIt synonyms : Hemoglobin Beta Chain E7K; NP_000509.1:p.E7K; Hemoglobin Subunit Beta Glu6Lys; Beta-Globin E7K; Hemoglobin Beta C Variant; HBB NP_000509.1:p.Glu7Lys; HBB E6K; Hemoglobin C Variant; HBB Glu7Lys; HBB p.Glu7Lys; Hemoglobin Subunit Beta E6K; Hemoglobin Subunit Beta Glu7Lys; Hemoglobin Beta Chain Glu7Lys; NP_000509.1:p.Glu7Lys; HBB Hemoglobin C; Beta-Globin Glu7Lys; HBB E7K; HBB p.E7K; HBB Glu6Lys; Hemoglobin Subunit Beta E7K;

NCIt definition : A change in the amino acid residue at position 7 in the hemoglobin subunit beta protein where glutamic acid has been replaced by lysine.;

NCIt note : This variant is often reported in the literature as Glu6Lys (E6K) but that numbering does not include the initiator methionine, which is post-translationally removed during hemoglobin synthesis.;

NCI Metathesaurus CUI : CL1406767;

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30/05/2025


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