ClinVar

NM_000518.5(HBB):c.33C>A (p.Ala11=)

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: 5226989 (on Assembly GRCh38)
• Chr11: 5248219 (on Assembly GRCh37)

Preferred name:

NM_000518.5(HBB):c.33C>A (p.Ala11=)

Other names:

p.Ala11=

HGVS:

• NC_000011.10:g.5226989G>T
• NG_000007.3:g.70627C>A
• NG_042296.1:g.520G>T
• NG_046672.1:g.4924G>T
• NG_059281.1:g.5083C>A
• NM_000518.5:c.33C>AMANE SELECT
• NP_000509.1:p.Ala11=
• LRG_1232t1:c.33C>A
• LRG_1232:g.5083C>A
• LRG_1232p1:p.Ala11=
• NC_000011.9:g.5248219G>T
• NM_000518.4:c.33C>A
• p.=
• p.Ala11Ala

This HGVS expression did not pass validation

Links:

dbSNP: rs35799536

NCBI 1000 Genomes Browser:

rs35799536

Molecular consequence:

• NM_000518.5:c.33C>A - synonymous variant - [Sequence Ontology: SO:0001819]