ClinVar

NM_003977.4(AIP):c.249G>T (p.Gly83=)

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: 67487155 (on Assembly GRCh38)
• Chr11: 67254626 (on Assembly GRCh37)

Preferred name:

NM_003977.4(AIP):c.249G>T (p.Gly83=)

HGVS:

• NC_000011.10:g.67487155G>T
• NG_008969.1:g.9122G>T
• NM_001302959.2:c.72G>T
• NM_001302960.2:c.249G>T
• NM_003977.4:c.249G>TMANE SELECT
• NP_001289888.1:p.Gly24=
• NP_001289889.1:p.Gly83=
• NP_003968.3:p.Gly83=
• LRG_460t1:c.249G>T
• LRG_460:g.9122G>T
• NC_000011.9:g.67254626G>T
• NM_003977.2:c.249G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs104895072

NCBI 1000 Genomes Browser:

rs104895072

Molecular consequence:

• NM_001302959.2:c.72G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001302960.2:c.249G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003977.4:c.249G>T - synonymous variant - [Sequence Ontology: SO:0001819]