ClinVar

NM_000518.5(HBB):c.9T>A (p.His3Gln)

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: 5227013 (on Assembly GRCh38)
• Chr11: 5248243 (on Assembly GRCh37)

Preferred name:

NM_000518.5(HBB):c.9T>A (p.His3Gln)

Other names:

H2Q

HGVS:

• NC_000011.10:g.5227013A>T
• NG_000007.3:g.70603T>A
• NG_042296.1:g.544A>T
• NG_046672.1:g.4948A>T
• NG_059281.1:g.5059T>A
• NM_000518.5:c.9T>AMANE SELECT
• NP_000509.1:p.His3Gln
• LRG_1232t1:c.9T>A
• LRG_1232:g.5059T>A
• LRG_1232p1:p.His3Gln
• NC_000011.9:g.5248243A>T
• P68871:p.His3Gln

This HGVS expression did not pass validation

Protein change:

H3Q; HIS2GLN

Links:

UniProtKB: P68871#VAR_002858; OMIM: 141900.0206; dbSNP: rs713040

NCBI 1000 Genomes Browser:

rs713040

Molecular consequence:

• NM_000518.5:c.9T>A - missense variant - [Sequence Ontology: SO:0001583]