ClinVar

NM_000518.4(HBB):c.271G>A (p.Glu91Lys)

Genes:

LOC106099062:HBB recombination region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 5226621 (on Assembly GRCh38)
• Chr11: 5247851 (on Assembly GRCh37)

Preferred name:

NM_000518.4(HBB):c.271G>A (p.Glu91Lys)

Other names:

E90K

HGVS:

• NC_000011.10:g.5226621C>T
• NG_000007.3:g.70995G>A
• NG_042296.1:g.152C>T
• NG_046672.1:g.4556C>T
• NG_053049.1:g.2942C>T
• NG_059281.1:g.5451G>A
• NM_000518.5:c.271G>AMANE SELECT
• NP_000509.1:p.Glu91Lys
• LRG_1232t1:c.271G>A
• LRG_1232:g.5451G>A
• LRG_1232p1:p.Glu91Lys
• NC_000011.9:g.5247851C>T
• NM_000518.4:c.271G>A
• P68871:p.Glu91Lys

This HGVS expression did not pass validation

Protein change:

E91K; GLU90LYS

Links:

HBVAR: 424; UniProtKB: P68871#VAR_002998; OMIM: 141900.0003; OMIM: 141900.0521; dbSNP: rs33913712

NCBI 1000 Genomes Browser:

rs33913712

Molecular consequence:

• NM_000518.5:c.271G>A - missense variant - [Sequence Ontology: SO:0001583]