ClinVar

NM_001622.4(AHSG):c.728T>C (p.Val243Ala)

Gene:

AHSG:alpha 2-HS glycoprotein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.3

Genomic location:

• Chr3: 186619909 (on Assembly GRCh38)
• Chr3: 186337698 (on Assembly GRCh37)

Preferred name:

NM_001622.4(AHSG):c.728T>C (p.Val243Ala)

HGVS:

• NC_000003.12:g.186619909T>C
• NG_011436.1:g.11849T>C
• NM_001354571.2:c.731T>C
• NM_001354572.2:c.725T>C
• NM_001354573.2:c.676-677T>C
• NM_001622.4:c.728T>CMANE SELECT
• NP_001341500.1:p.Val244Ala
• NP_001341501.1:p.Val242Ala
• NP_001613.2:p.Val243Ala
• NC_000003.11:g.186337698T>C
• NM_001622.2:c.728T>C

This HGVS expression did not pass validation

Protein change:

V242A

Molecular consequence:

• NM_001354573.2:c.676-677T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354571.2:c.731T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354572.2:c.725T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001622.4:c.728T>C - missense variant - [Sequence Ontology: SO:0001583]