ClinVar

NM_000133.4(F9):c.1095A>G (p.Ser365=)

Gene:

F9:coagulation factor IX [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq27.1

Genomic location:

• ChrX: 139561780 (on Assembly GRCh38)
• ChrX: 138643939 (on Assembly GRCh37)

Preferred name:

NM_000133.4(F9):c.1095A>G (p.Ser365=)

Other names:

NM_000133.3(F9):c.1095A>G; p.Ser365=

HGVS:

• NC_000023.11:g.139561780A>G
• NG_007994.1:g.36045A>G
• NM_000133.4:c.1095A>GMANE SELECT
• NM_001313913.2:c.981A>G
• NP_000124.1:p.Ser365=
• NP_000124.1:p.Ser365=
• NP_001300842.1:p.Ser327=
• LRG_556t1:c.1095A>G
• LRG_556:g.36045A>G
• LRG_556p1:p.Ser365=
• NC_000023.10:g.138643939A>G
• NM_000133.3:c.1095A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs112057482

NCBI 1000 Genomes Browser:

rs112057482

Molecular consequence:

• NM_000133.4:c.1095A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001313913.2:c.981A>G - synonymous variant - [Sequence Ontology: SO:0001819]