ClinVar

NM_003977.4(AIP):c.166C>A (p.Arg56Ser)

Genes:

LOC130006206:ATAC-STARR-seq lymphoblastoid active region 5107 [Gene]
AIP:aryl hydrocarbon receptor interacting protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 67487072 (on Assembly GRCh38)
• Chr11: 67254543 (on Assembly GRCh37)

Preferred name:

NM_003977.4(AIP):c.166C>A (p.Arg56Ser)

HGVS:

• NC_000011.10:g.67487072C>A
• NG_008969.1:g.9039C>A
• NM_001302959.2:c.-12C>A
• NM_001302960.2:c.166C>A
• NM_003977.4:c.166C>AMANE SELECT
• NP_001289889.1:p.Arg56Ser
• NP_003968.3:p.Arg56Ser
• LRG_460t1:c.166C>A
• LRG_460:g.9039C>A
• NC_000011.9:g.67254543C>A
• NM_003977.2:c.166C>A

This HGVS expression did not pass validation

Protein change:

R56S

Links:

dbSNP: rs267606538

NCBI 1000 Genomes Browser:

rs267606538

Molecular consequence:

• NM_001302959.2:c.-12C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001302960.2:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003977.4:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]