ClinVar

NM_001622.4(AHSG):c.510C>T (p.Ala170=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.3

Genomic location:

• Chr3: 186617287 (on Assembly GRCh38)
• Chr3: 186335076 (on Assembly GRCh37)

Preferred name:

NM_001622.4(AHSG):c.510C>T (p.Ala170=)

HGVS:

• NC_000003.12:g.186617287C>T
• NG_011436.1:g.9227C>T
• NM_001354571.2:c.513C>T
• NM_001354572.2:c.507C>T
• NM_001354573.2:c.510C>T
• NM_001622.4:c.510C>TMANE SELECT
• NP_001341500.1:p.Ala171=
• NP_001341501.1:p.Ala169=
• NP_001341502.1:p.Ala170=
• NP_001613.2:p.Ala170=
• NC_000003.11:g.186335076C>T
• NM_001622.2:c.510C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs78152999

NCBI 1000 Genomes Browser:

rs78152999

Molecular consequence:

• NM_001354571.2:c.513C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354572.2:c.507C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354573.2:c.510C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001622.4:c.510C>T - synonymous variant - [Sequence Ontology: SO:0001819]