ClinVar

NM_002074.5(GNB1):c.230G>A (p.Gly77Asp)

Gene:

GNB1:G protein subunit beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.33

Genomic location:

• Chr1: 1806512 (on Assembly GRCh38)
• Chr1: 1737951 (on Assembly GRCh37)

Preferred name:

NM_002074.5(GNB1):c.230G>A (p.Gly77Asp)

HGVS:

• NC_000001.11:g.1806512C>T
• NG_047052.1:g.89606G>A
• NM_001282538.2:c.-71G>A
• NM_001282539.2:c.230G>A
• NM_002074.5:c.230G>AMANE SELECT
• NP_001269468.1:p.Gly77Asp
• NP_002065.1:p.Gly77Asp
• NC_000001.10:g.1737951C>T
• NM_002074.3:c.230G>A
• NM_002074.4:c.230G>A

This HGVS expression did not pass validation

Protein change:

G77D

Links:

dbSNP: rs1135401746

NCBI 1000 Genomes Browser:

rs1135401746

Molecular consequence:

• NM_001282538.2:c.-71G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001282539.2:c.230G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002074.5:c.230G>A - missense variant - [Sequence Ontology: SO:0001583]