ClinVar

NM_000488.4(SERPINC1):c.980T>C (p.Val327Ala)

Gene:

SERPINC1:serpin family C member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.1

Genomic location:

• Chr1: 173909725 (on Assembly GRCh38)
• Chr1: 173878863 (on Assembly GRCh37)

Preferred name:

NM_000488.4(SERPINC1):c.980T>C (p.Val327Ala)

HGVS:

• NC_000001.11:g.173909725A>G
• NG_012462.1:g.12654T>C
• NM_000488.4:c.980T>CMANE SELECT
• NM_001365052.2:c.836T>C
• NM_001386302.1:c.1103T>C
• NM_001386303.1:c.1061T>C
• NM_001386304.1:c.959T>C
• NM_001386305.1:c.923T>C
• NM_001386306.1:c.764T>C
• NP_000479.1:p.Val327Ala
• NP_001351981.1:p.Val279Ala
• NP_001373231.1:p.Val368Ala
• NP_001373232.1:p.Val354Ala
• NP_001373233.1:p.Val320Ala
• NP_001373234.1:p.Val308Ala
• NP_001373235.1:p.Val255Ala
• LRG_577:g.12654T>C
• NC_000001.10:g.173878863A>G

This HGVS expression did not pass validation

Protein change:

V255A

Links:

dbSNP: rs773399107

NCBI 1000 Genomes Browser:

rs773399107

Molecular consequence:

• NM_000488.4:c.980T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365052.2:c.836T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386302.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386303.1:c.1061T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386304.1:c.959T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386305.1:c.923T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386306.1:c.764T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1