Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

Alleles
A/C | Ancestral: A | Ambiguity code: M | MAF: 0.03 (C)
Location

Chromosome 12:10118488 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM094546

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 17 HGVS names - click the plus to show

12:g.10118488A>C
ENST00000465100.2:c.*500T>G
ENST00000298523.6:c.*25T>G
ENST00000353231.6:c.576T>G
ENSP00000266456.6:p.Tyr192Ter
ENST00000304084.9:c.714T>G
ENSP00000302569.8:p.Tyr238Ter
ENST00000396484.3:c.477T>G
ENSP00000379743.2:p.Tyr159Ter
ENST00000534609.2:n.2014T>G
ENST00000533022.2:c.*25T>G
ENST00000529761.2:c.714T>G
ENSP00000432876.1:p.Tyr238Ter
ENST00000349926.6:c.*187T>G
LRG_179:g.16782T>G
LRG_179t1.1:c.714T>G
LRG_179p1.1:p.Tyr238Ter

This variation has assays on 7 chips - click the plus to show

Variation displays