ClinVar

NM_003977.4(AIP):c.47G>A (p.Arg16His)

Gene:

AIP:aryl hydrocarbon receptor interacting protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 67483205 (on Assembly GRCh38)
• Chr11: 67250676 (on Assembly GRCh37)

Preferred name:

NM_003977.4(AIP):c.47G>A (p.Arg16His)

HGVS:

• NC_000011.10:g.67483205G>A
• NG_008969.1:g.5172G>A
• NM_001302960.2:c.47G>A
• NM_003977.4:c.47G>AMANE SELECT
• NP_001289889.1:p.Arg16His
• NP_003968.3:p.Arg16His
• LRG_460t1:c.47G>A
• LRG_460:g.5172G>A
• NC_000011.9:g.67250676G>A
• NM_003977.2:c.47G>A
• NM_003977.3:c.47G>A

This HGVS expression did not pass validation

Protein change:

R16H

Links:

dbSNP: rs145047094

NCBI 1000 Genomes Browser:

rs145047094

Molecular consequence:

• NM_001302960.2:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003977.4:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]