ClinVar

NM_000518.5(HBB):c.262A>C (p.Thr88Pro)

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: 5226630 (on Assembly GRCh38)
• Chr11: 5247860 (on Assembly GRCh37)

Preferred name:

NM_000518.5(HBB):c.262A>C (p.Thr88Pro)

Other names:

T87P

HGVS:

• NC_000011.10:g.5226630T>G
• NG_000007.3:g.70986A>C
• NG_042296.1:g.161T>G
• NG_046672.1:g.4565T>G
• NG_053049.1:g.2951T>G
• NG_059281.1:g.5442A>C
• NM_000518.5:c.262A>CMANE SELECT
• NP_000509.1:p.Thr88Pro
• LRG_1232t1:c.262A>C
• LRG_1232:g.5442A>C
• LRG_1232p1:p.Thr88Pro
• NC_000011.9:g.5247860T>G
• NM_000518.4:c.262A>C
• P68871:p.Thr88Pro

This HGVS expression did not pass validation

Protein change:

T88P; THR87PRO

Links:

UniProtKB: P68871#VAR_002992; OMIM: 141900.0400; dbSNP: rs35553496

NCBI 1000 Genomes Browser:

rs35553496

Molecular consequence:

• NM_000518.5:c.262A>C - missense variant - [Sequence Ontology: SO:0001583]