ClinVar

NM_000518.5(HBB):c.389C>T (p.Ala130Val)

Genes:

LOC110006319:beta-globin gene 3' regulatory 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: 5225653 (on Assembly GRCh38)
• Chr11: 5246883 (on Assembly GRCh37)

Preferred name:

NM_000518.5(HBB):c.389C>T (p.Ala130Val)

Other names:

A129V

HGVS:

• NC_000011.10:g.5225653G>A
• NG_000007.3:g.71963C>T
• NG_046672.1:g.3588G>A
• NG_053049.1:g.1974G>A
• NG_059281.1:g.6419C>T
• NM_000518.5:c.389C>TMANE SELECT
• NP_000509.1:p.Ala130Val
• LRG_1232t1:c.389C>T
• LRG_1232:g.6419C>T
• LRG_1232p1:p.Ala130Val
• NC_000011.9:g.5246883G>A
• NM_000518.4:c.389C>T
• P68871:p.Ala130Val

This HGVS expression did not pass validation

Protein change:

A130V; ALA129VAL

Links:

UniProtKB: P68871#VAR_003062; OMIM: 141900.0154; dbSNP: rs111645889

NCBI 1000 Genomes Browser:

rs111645889

Molecular consequence:

• NM_000518.5:c.389C>T - missense variant - [Sequence Ontology: SO:0001583]