ClinVar

NM_000518.5(HBB):c.324C>T (p.Gly108=)

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: 5225718 (on Assembly GRCh38)
• Chr11: 5246948 (on Assembly GRCh37)

Preferred name:

NM_000518.5(HBB):c.324C>T (p.Gly108=)

HGVS:

• NC_000011.10:g.5225718G>A
• NG_000007.3:g.71898C>T
• NG_046672.1:g.3653G>A
• NG_053049.1:g.2039G>A
• NG_059281.1:g.6354C>T
• NM_000518.5:c.324C>TMANE SELECT
• NP_000509.1:p.Gly108=
• LRG_1232t1:c.324C>T
• LRG_1232:g.6354C>T
• LRG_1232p1:p.Gly108=
• NC_000011.9:g.5246948G>A
• NM_000518.4:c.324C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs193922562

NCBI 1000 Genomes Browser:

rs193922562

Molecular consequence:

• NM_000518.5:c.324C>T - synonymous variant - [Sequence Ontology: SO:0001819]