ClinVar

NM_000518.4(HBB):c.410G>A (p.Gly137Asp)

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: 5225632 (on Assembly GRCh38)
• Chr11: 5246862 (on Assembly GRCh37)

Preferred name:

NM_000518.4(HBB):c.410G>A (p.Gly137Asp)

Other names:

G136D; Hb Hope

HGVS:

• NC_000011.10:g.5225632C>T
• NG_000007.3:g.71984G>A
• NG_046672.1:g.3567C>T
• NG_053049.1:g.1953C>T
• NG_059281.1:g.6440G>A
• NM_000518.5:c.410G>AMANE SELECT
• NP_000509.1:p.Gly137Asp
• NP_000509.1:p.Gly137Asp
• LRG_1232t1:c.410G>A
• HBB:c.410G>A
• LRG_1232:g.6440G>A
• LRG_1232p1:p.Gly137Asp
• NC_000011.9:g.5246862C>T
• NM_000518.3:c.410G>A
• NM_000518.4:c.410G>A
• P68871:p.Gly137Asp

This HGVS expression did not pass validation

Protein change:

G137D; GLY136ASP

Links:

HBVAR: 548; UniProtKB: P68871#VAR_003075; OMIM: 141900.0112; dbSNP: rs33949486

NCBI 1000 Genomes Browser:

rs33949486

Molecular consequence:

• NM_000518.5:c.410G>A - missense variant - [Sequence Ontology: SO:0001583]