ClinVar

NM_001063.4(TF):c.829G>A (p.Gly277Ser)

Gene:

TF:transferrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q22.1

Genomic location:

• Chr3: 133756968 (on Assembly GRCh38)
• Chr3: 133475812 (on Assembly GRCh37)

Preferred name:

NM_001063.4(TF):c.829G>A (p.Gly277Ser)

HGVS:

• NC_000003.12:g.133756968G>A
• NG_013080.2:g.99971G>A
• NM_001063.4:c.829G>AMANE SELECT
• NM_001354703.2:c.697G>A
• NM_001354704.2:c.448G>A
• NP_001054.2:p.Gly277Ser
• NP_001341632.2:p.Gly233Ser
• NP_001341633.2:p.Gly150Ser
• NC_000003.11:g.133475812G>A
• NM_001063.3:c.829G>A
• P02787:p.Gly277Ser

This HGVS expression did not pass validation

Protein change:

G150S; GLY277SER

Links:

UniProtKB: P02787#VAR_011998; OMIM: 190000.0008; dbSNP: rs1799899

NCBI 1000 Genomes Browser:

rs1799899

Molecular consequence:

• NM_001063.4:c.829G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354703.2:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354704.2:c.448G>A - missense variant - [Sequence Ontology: SO:0001583]