C172938Level 5
HBB NP_000509.1:p.E7K
**Semantic type:** Cell or Molecular Dysfunction
**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A change in the amino acid residue at position 7 in the hemoglobin subunit beta protein where glutamic acid has been replaced by lysine.
**Synonyms:** - Beta-Globin E7K - Beta-Globin Glu7Lys - HBB E6K - HBB E7K - HBB Glu6Lys - HBB Glu7Lys - HBB Hemoglobin C - HBB NP_000509.1:p.Glu7Lys - HBB p.E7K - HBB p.Glu7Lys - Hemoglobin Beta C Variant - Hemoglobin Beta Chain E7K - Hemoglobin Beta Chain Glu7Lys - Hemoglobin C Variant - Hemoglobin Subunit Beta E6K - Hemoglobin Subunit Beta E7K - Hemoglobin Subunit Beta Glu6Lys - Hemoglobin Subunit Beta Glu7Lys - NP_000509.1:p.E7K - NP_000509.1:p.Glu7Lys
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Cross-system equivalences0
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