Original source

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

Alleles
A/G | Ancestral: A | Ambiguity code: R | MAF: < 0.01 (G)
Location

Chromosome 6:43614018 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM003167

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

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

6:g.43614018A>G
ENST00000496137.3:c.*131+6101T>C
ENST00000372226.1:c.*287A>G
ENST00000372236.6:c.1603A>G
ENSP00000361310.4:p.Lys535Glu
LRG_470:g.42878A>G
LRG_470t1:c.1603A>G
LRG_470p1:p.Lys535Glu

This variation has assays on 4 chips - click the plus to show

Variation displays