ClinVar

NM_000518.4(HBB):c.428C>A (p.Ala143Asp)

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: 5225614 (on Assembly GRCh38)
• Chr11: 5246844 (on Assembly GRCh37)

Preferred name:

NM_000518.4(HBB):c.428C>A (p.Ala143Asp)

Other names:

A142D

HGVS:

• NC_000011.10:g.5225614G>T
• NG_000007.3:g.72002C>A
• NG_046672.1:g.3549G>T
• NG_053049.1:g.1935G>T
• NG_059281.1:g.6458C>A
• NM_000518.5:c.428C>AMANE SELECT
• NP_000509.1:p.Ala143Asp
• LRG_1232t1:c.428C>A
• LRG_1232:g.6458C>A
• LRG_1232p1:p.Ala143Asp
• NC_000011.9:g.5246844G>T
• NM_000518.4:c.428C>A
• P68871:p.Ala143Asp

This HGVS expression did not pass validation

Protein change:

A143D; ALA142ASP

Links:

HBVAR: 559; UniProtKB: P68871#VAR_003084; OMIM: 141900.0204; dbSNP: rs33921821

NCBI 1000 Genomes Browser:

rs33921821

Molecular consequence:

• NM_000518.5:c.428C>A - missense variant - [Sequence Ontology: SO:0001583]