ClinVar

NM_001955.5(EDN1):c.184G>C (p.Glu62Gln)

Gene:

EDN1:endothelin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.1

Genomic location:

• Chr6: 12292460 (on Assembly GRCh38)
• Chr6: 12292693 (on Assembly GRCh37)

Preferred name:

NM_001955.5(EDN1):c.184G>C (p.Glu62Gln)

HGVS:

• NC_000006.12:g.12292460G>C
• NG_016196.1:g.7165G>C
• NM_001168319.2:c.181G>C
• NM_001955.5:c.184G>CMANE SELECT
• NP_001161791.1:p.Glu61Gln
• NP_001946.3:p.Glu62Gln
• NC_000006.11:g.12292693G>C
• NM_001955.4:c.184G>C

This HGVS expression did not pass validation

Protein change:

E61Q

Links:

dbSNP: rs1561693994

NCBI 1000 Genomes Browser:

rs1561693994

Molecular consequence:

• NM_001168319.2:c.181G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001955.5:c.184G>C - missense variant - [Sequence Ontology: SO:0001583]