Original source

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

Alleles
C/A/T | Ancestral: C | Ambiguity code: H
Location

Chromosome 11:17387490 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM055966, CM040764

Most severe consequence
Evidence status

Clinical significance

This variation has 8 synonyms - click the plus to show

This variation has 14 HGVS names - click the plus to show

Variant allele A
11:g.17387490C>A
ENST00000526912.1:c.341G>T
ENSP00000432729.1:p.Arg114Leu
ENST00000528731.1:c.341G>T
ENSP00000434755.1:p.Arg114Leu
ENST00000339994.4:c.602G>T
ENSP00000345708.4:p.Arg201Leu

Variant allele T
11:g.17387490C>T
ENST00000526912.1:c.341G>A
ENSP00000432729.1:p.Arg114His
ENST00000528731.1:c.341G>A
ENSP00000434755.1:p.Arg114His
ENST00000339994.4:c.602G>A
ENSP00000345708.4:p.Arg201His

Variation displays