Original source

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

Alleles
C/G|Ancestral: C|Ambiguity code: S
Location

Chromosome 5:37002734 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM042511

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15886

HGVS names

This variant has 6 HGVS names - Hide

5:g.37002734C>G
ENST00000448238.2:c.3737C>G
ENSP00000406266.2:p.Ala1246Gly
ENST00000621733.1:c.1-61844C>G
ENST00000282516.12:c.3737C>G
ENSP00000282516.8:p.Ala1246Gly

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays