ClinVar

NM_001622.4(AHSG):c.1077G>C (p.Pro359=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.3

Genomic location:

• Chr3: 186620903 (on Assembly GRCh38)
• Chr3: 186338692 (on Assembly GRCh37)

Preferred name:

NM_001622.4(AHSG):c.1077G>C (p.Pro359=)

HGVS:

• NC_000003.12:g.186620903G>C
• NG_011436.1:g.12843G>C
• NM_001354571.2:c.1080G>C
• NM_001354572.2:c.1074G>C
• NM_001354573.2:c.993G>C
• NM_001622.4:c.1077G>CMANE SELECT
• NP_001341500.1:p.Pro360=
• NP_001341501.1:p.Pro358=
• NP_001341502.1:p.Pro331=
• NP_001613.2:p.Pro359=
• NC_000003.11:g.186338692G>C
• NM_001622.2:c.1077G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs770177604

NCBI 1000 Genomes Browser:

rs770177604

Molecular consequence:

• NM_001354571.2:c.1080G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354572.2:c.1074G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354573.2:c.993G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001622.4:c.1077G>C - synonymous variant - [Sequence Ontology: SO:0001819]