ClinVar

NM_000518.5(HBB):c.420T>A (p.Asn140Lys)

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: 5225622 (on Assembly GRCh38)
• Chr11: 5246852 (on Assembly GRCh37)

Preferred name:

NM_000518.5(HBB):c.420T>A (p.Asn140Lys)

Other names:

N139K

HGVS:

• NC_000011.10:g.5225622A>T
• NG_000007.3:g.71994T>A
• NG_046672.1:g.3557A>T
• NG_053049.1:g.1943A>T
• NG_059281.1:g.6450T>A
• NM_000518.5:c.420T>AMANE SELECT
• NP_000509.1:p.Asn140Lys
• LRG_1232t1:c.420T>A
• LRG_1232:g.6450T>A
• LRG_1232p1:p.Asn140Lys
• NC_000011.9:g.5246852A>T
• P68871:p.Asn140Lys

This HGVS expression did not pass validation

Protein change:

N140K; ASN139LYS

Links:

UniProtKB: P68871#VAR_003078; OMIM: 141900.0108; dbSNP: rs34240441

NCBI 1000 Genomes Browser:

rs34240441

Molecular consequence:

• NM_000518.5:c.420T>A - missense variant - [Sequence Ontology: SO:0001583]