ClinVar

NM_003977.4(AIP):c.2T>C (p.Met1Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 67483160 (on Assembly GRCh38)
• Chr11: 67250631 (on Assembly GRCh37)

Preferred name:

NM_003977.4(AIP):c.2T>C (p.Met1Thr)

HGVS:

• NC_000011.10:g.67483160T>C
• NG_008969.1:g.5127T>C
• NM_001302960.2:c.2T>C
• NM_003977.4:c.2T>CMANE SELECT
• NP_001289889.1:p.Met1Thr
• NP_003968.3:p.Met1Thr
• LRG_460t1:c.2T>C
• LRG_460:g.5127T>C
• NC_000011.9:g.67250631T>C
• NM_003977.2:c.2T>C

This HGVS expression did not pass validation

Protein change:

M1T

Links:

dbSNP: rs267606546

NCBI 1000 Genomes Browser:

rs267606546

Molecular consequence:

• NM_001302960.2:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_003977.4:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001302960.2:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_003977.4:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]