Original source

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

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

Chromosome 11:17387583 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM061824, CM050281

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

This variation has 7 HGVS names - click the plus to show

11:g.17387583T>C
ENST00000526912.1:c.248A>G
ENSP00000432729.1:p.Lys83Arg
ENST00000528731.1:c.248A>G
ENSP00000434755.1:p.Lys83Arg
ENST00000339994.4:c.509A>G
ENSP00000345708.4:p.Lys170Arg

Variation displays