ClinVar

NM_001122659.3(EDNRB):c.1301G>A (p.Arg434His)

Genes:

EDNRB-AS1:EDNRB antisense RNA 1 [Gene - HGNC]
EDNRB:endothelin receptor type B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q22.3

Genomic location:

• Chr13: 77898228 (on Assembly GRCh38)
• Chr13: 78472363 (on Assembly GRCh37)

Preferred name:

NM_001122659.3(EDNRB):c.1301G>A (p.Arg434His)

HGVS:

• NC_000013.11:g.77898228C>T
• NG_011630.3:g.81496G>A
• NM_000115.5:c.1301G>A
• NM_001122659.3:c.1301G>AMANE SELECT
• NM_001201397.2:c.1571G>A
• NM_003991.4:c.1194+1631G>A
• NP_000106.1:p.Arg434His
• NP_001116131.1:p.Arg434His
• NP_001188326.1:p.Arg524His
• NP_001188326.1:p.Arg524His
• NC_000013.10:g.78472363C>T
• NM_000115.4:c.1301G>A
• NM_001201397.1:c.1571G>A

This HGVS expression did not pass validation

Protein change:

R434H

Molecular consequence:

• NM_003991.4:c.1194+1631G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000115.5:c.1301G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001122659.3:c.1301G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001201397.2:c.1571G>A - missense variant - [Sequence Ontology: SO:0001583]