ClinVar

NM_031157.4(HNRNPA1):c.973T>C (p.Phe325Leu)

Gene:

HNRNPA1:heterogeneous nuclear ribonucleoprotein A1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 54283877 (on Assembly GRCh38)
• Chr12: 54677661 (on Assembly GRCh37)

Preferred name:

NM_031157.4(HNRNPA1):c.973T>C (p.Phe325Leu)

HGVS:

• NC_000012.12:g.54283877T>C
• NG_033830.1:g.8174T>C
• NM_002136.4:c.817T>C
• NM_031157.4:c.973T>CMANE SELECT
• NP_002127.1:p.Phe273Leu
• NP_112420.1:p.Phe325Leu
• NC_000012.11:g.54677661T>C
• NM_002136.2:c.817T>C
• NR_135167.2:n.899T>C

This HGVS expression did not pass validation

Protein change:

F273L

Links:

dbSNP: rs483353028

NCBI 1000 Genomes Browser:

rs483353028

Molecular consequence:

• NM_002136.4:c.817T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_031157.4:c.973T>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_135167.2:n.899T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]