ClinVar

NM_001614.5(ACTG1):c.345C>T (p.Asn115=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 81511921 (on Assembly GRCh38)
• Chr17: 79478947 (on Assembly GRCh37)

Preferred name:

NM_001614.5(ACTG1):c.345C>T (p.Asn115=)

HGVS:

• NC_000017.11:g.81511921G>A
• NG_011433.1:g.5881C>T
• NM_001199954.3:c.345C>T
• NM_001614.5:c.345C>TMANE SELECT
• NP_001186883.1:p.Asn115=
• NP_001605.1:p.Asn115=
• NC_000017.10:g.79478947G>A
• NM_001199954.1:c.345C>T
• NM_001614.3:c.345C>T
• NR_037688.3:n.417C>T
• p.Asn115Asn

This HGVS expression did not pass validation

Links:

dbSNP: rs149057480

NCBI 1000 Genomes Browser:

rs149057480

Molecular consequence:

• NR_037688.3:n.417C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001199954.3:c.345C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001614.5:c.345C>T - synonymous variant - [Sequence Ontology: SO:0001819]