ClinVar

NM_000128.4(F11):c.1839G>A (p.Glu613=)

Genes:

F11-AS1:F11 antisense RNA 1 [Gene - HGNC]
F11:coagulation factor XI [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q35.2

Genomic location:

• Chr4: 186288575 (on Assembly GRCh38)
• Chr4: 187209729 (on Assembly GRCh37)

Preferred name:

NM_000128.4(F11):c.1839G>A (p.Glu613=)

HGVS:

• NC_000004.12:g.186288575G>A
• NG_008051.1:g.27612G>A
• NM_000128.4:c.1839G>AMANE SELECT
• NP_000119.1:p.Glu613=
• NP_000119.1:p.Glu613=
• LRG_583t1:c.1839G>A
• LRG_583:g.27612G>A
• LRG_583p1:p.Glu613=
• NC_000004.11:g.187209729G>A
• NM_000128.3:c.1839G>A
• NR_033900.1:n.919C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs5976

NCBI 1000 Genomes Browser:

rs5976

Molecular consequence:

• NR_033900.1:n.919C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000128.4:c.1839G>A - synonymous variant - [Sequence Ontology: SO:0001819]