ClinVar

NM_000488.4(SERPINC1):c.525C>T (p.Ala175=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.1

Genomic location:

• Chr1: 173911898 (on Assembly GRCh38)
• Chr1: 173881036 (on Assembly GRCh37)

Preferred name:

NM_000488.4(SERPINC1):c.525C>T (p.Ala175=)

HGVS:

• NC_000001.11:g.173911898G>A
• NG_012462.1:g.10481C>T
• NM_000488.4:c.525C>TMANE SELECT
• NM_001365052.2:c.381C>T
• NM_001386302.1:c.525C>T
• NM_001386303.1:c.606C>T
• NM_001386304.1:c.525C>T
• NM_001386305.1:c.525C>T
• NM_001386306.1:c.409-1007C>T
• NP_000479.1:p.Ala175=
• NP_000479.1:p.Ala175=
• NP_001351981.1:p.Ala127=
• NP_001373231.1:p.Ala175=
• NP_001373232.1:p.Ala202=
• NP_001373233.1:p.Ala175=
• NP_001373234.1:p.Ala175=
• LRG_577t1:c.525C>T
• LRG_577:g.10481C>T
• LRG_577p1:p.Ala175=
• NC_000001.10:g.173881036G>A
• NM_000488.3:c.525C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1553218235

NCBI 1000 Genomes Browser:

rs1553218235

Molecular consequence:

• NM_001386306.1:c.409-1007C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000488.4:c.525C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001365052.2:c.381C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386302.1:c.525C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386303.1:c.606C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386304.1:c.525C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386305.1:c.525C>T - synonymous variant - [Sequence Ontology: SO:0001819]