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
Location

Chromosome 6:43614181 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM003168

Most severe consequence
Clinical significance

Synonyms

LSDB 12340

This variation has 8 HGVS names - click the plus to show

6:g.43614181A>C
ENST00000372226.1:c.*450A>C
ENST00000496137.3:c.*131+5938T>G
ENST00000372236.6:c.1766A>C
ENSP00000361310.4:p.Lys589Thr
LRG_470:g.43041A>C
LRG_470t1:c.1766A>C
LRG_470p1:p.Lys589Thr

Genotyping chips

This variation has assays on: HumanCoreExome-12

Variation displays