ClinVar

NM_001614.5(ACTG1):c.414C>T (p.Ala138=)

Gene:

ACTG1:actin gamma 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 81511576 (on Assembly GRCh38)
• Chr17: 79478602 (on Assembly GRCh37)

Preferred name:

NM_001614.5(ACTG1):c.414C>T (p.Ala138=)

HGVS:

• NC_000017.11:g.81511576G>A
• NG_011433.1:g.6226C>T
• NM_001199954.3:c.414C>T
• NM_001614.5:c.414C>TMANE SELECT
• NP_001186883.1:p.Ala138=
• NP_001605.1:p.Ala138=
• NC_000017.10:g.79478602G>A
• NM_001199954.1:c.414C>T
• NM_001614.3:c.414C>T
• NR_037688.3:n.486C>T
• p.Ala138Ala

This HGVS expression did not pass validation

Links:

dbSNP: rs143978597

NCBI 1000 Genomes Browser:

rs143978597

Molecular consequence:

• NR_037688.3:n.486C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001199954.3:c.414C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001614.5:c.414C>T - synonymous variant - [Sequence Ontology: SO:0001819]