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 | MAF: < 0.01 (A)
Location

Chromosome 11:17387190 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM051095

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 9668

This variation has 10 HGVS names - click the plus to show

Variant allele A
11:g.17387190C>A
ENST00000528731.1:c.641G>T
ENSP00000434755.1:p.Arg214Leu
ENST00000339994.4:c.902G>T
ENSP00000345708.4:p.Arg301Leu

Variant allele T
11:g.17387190C>T
ENST00000528731.1:c.641G>A
ENSP00000434755.1:p.Arg214His
ENST00000339994.4:c.902G>A
ENSP00000345708.4:p.Arg301His

Variation displays