ClinVar

NM_001622.4(AHSG):c.1088G>C (p.Arg363Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.3

Genomic location:

• Chr3: 186620914 (on Assembly GRCh38)
• Chr3: 186338703 (on Assembly GRCh37)

Preferred name:

NM_001622.4(AHSG):c.1088G>C (p.Arg363Thr)

HGVS:

• NC_000003.12:g.186620914G>C
• NG_011436.1:g.12854G>C
• NM_001354571.2:c.1091G>C
• NM_001354572.2:c.1085G>C
• NM_001354573.2:c.1004G>C
• NM_001622.4:c.1088G>CMANE SELECT
• NP_001341500.1:p.Arg364Thr
• NP_001341501.1:p.Arg362Thr
• NP_001341502.1:p.Arg335Thr
• NP_001613.2:p.Arg363Thr
• NC_000003.11:g.186338703G>C
• NM_001622.2:c.1088G>C

This HGVS expression did not pass validation

Protein change:

R335T

Molecular consequence:

• NM_001354571.2:c.1091G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354572.2:c.1085G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354573.2:c.1004G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001622.4:c.1088G>C - missense variant - [Sequence Ontology: SO:0001583]