Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome 11:17474961 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM072816

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 9 HGVS names - click the plus to show

11:g.17474961T>C
ENST00000389817.7:c.215A>G
ENSP00000374467.3:p.Asn72Ser
ENST00000527905.5:c.215A>G
ENSP00000431653.1:p.Asn72Ser
ENST00000532728.5:n.246A>G
ENST00000302539.8:c.215A>G
ENSP00000303960.4:p.Asn72Ser
ENST00000612903.1:c.148+1668A>G

About this variant

This variant overlaps 5 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays