Original source

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

Alleles
A/C/G | Ancestral: A | Ambiguity code: V
Location

Chromosome 11:17470119 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM072823, CM061628

Most severe consequence
Evidence status

Clinical significance

This variation has 7 synonyms - click the plus to show

This variation has 16 HGVS names - click the plus to show

Variant allele C
11:g.17470119A>C
ENST00000527905.3:c.394T>G
ENSP00000431653.1:p.Phe132Val
ENST00000389817.5:c.394T>G
ENSP00000374467.3:p.Phe132Val
ENST00000532728.3:n.425T>G
ENST00000302539.6:c.394T>G
ENSP00000303960.4:p.Phe132Val

Variant allele G
11:g.17470119A>G
ENST00000527905.3:c.394T>C
ENSP00000431653.1:p.Phe132Leu
ENST00000389817.5:c.394T>C
ENSP00000374467.3:p.Phe132Leu
ENST00000532728.3:n.425T>C
ENST00000302539.6:c.394T>C
ENSP00000303960.4:p.Phe132Leu

Variation displays