Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome 5:37057211 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM041506

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15879

HGVS names

This variant has 7 HGVS names - Hide

5:g.37057211A>G
ENST00000514335.1:n.1171A>G
ENST00000448238.2:c.7289A>G
ENSP00000406266.2:p.Tyr2430Cys
ENST00000282516.12:c.7289A>G
ENSP00000282516.8:p.Tyr2430Cys
ENST00000621733.1:c.1-7367A>G

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays