ClinVar

NM_001063.4(TF):c.624G>A (p.Ser208=)

Gene:

TF:transferrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q22.1

Genomic location:

• Chr3: 133755484 (on Assembly GRCh38)
• Chr3: 133474328 (on Assembly GRCh37)

Preferred name:

NM_001063.4(TF):c.624G>A (p.Ser208=)

HGVS:

• NC_000003.12:g.133755484G>A
• NG_013080.2:g.98487G>A
• NM_001063.4:c.624G>AMANE SELECT
• NM_001354703.2:c.492G>A
• NM_001354704.2:c.243G>A
• NP_001054.2:p.Ser208=
• NP_001341632.2:p.Ser164=
• NP_001341633.2:p.Ser81=
• NC_000003.11:g.133474328G>A
• NM_001063.3:c.624G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs12769

NCBI 1000 Genomes Browser:

rs12769

Molecular consequence:

• NM_001063.4:c.624G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354703.2:c.492G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354704.2:c.243G>A - synonymous variant - [Sequence Ontology: SO:0001819]