ClinVar

NM_001614.5(ACTG1):c.954C>T (p.Thr318=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 81510957 (on Assembly GRCh38)
• Chr17: 79477983 (on Assembly GRCh37)

Preferred name:

NM_001614.5(ACTG1):c.954C>T (p.Thr318=)

HGVS:

• NC_000017.11:g.81510957G>A
• NG_011433.1:g.6845C>T
• NM_001199954.3:c.954C>T
• NM_001614.5:c.954C>TMANE SELECT
• NP_001186883.1:p.Thr318=
• NP_001605.1:p.Thr318=
• NC_000017.10:g.79477983G>A
• NM_001199954.1:c.954C>T
• NM_001614.3:c.954C>T
• NR_037688.3:n.1026C>T
• p.Thr318Thr

This HGVS expression did not pass validation

Links:

dbSNP: rs3211110

NCBI 1000 Genomes Browser:

rs3211110

Molecular consequence:

• NR_037688.3:n.1026C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001199954.3:c.954C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001614.5:c.954C>T - synonymous variant - [Sequence Ontology: SO:0001819]