Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 6:112069548 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM991255

Most severe consequence
Clinical significance

Synonyms

LSDB 11868

This variation has 17 HGVS names - click the plus to show

6:g.112069548G>A
ENST00000620524.1:c.*299G>A
ENST00000361714.2:c.993G>A
ENSP00000354734.2:p.Trp331Ter
ENST00000409166.2:c.321G>A
ENSP00000386467.1:p.Trp107Ter
ENST00000454589.2:c.*397G>A
ENST00000368663.3:c.924G>A
ENSP00000357652.3:p.Trp308Ter
ENST00000613648.1:n.828G>A
ENST00000368664.4:c.*397G>A
ENST00000230529.6:c.993G>A
ENSP00000230529.5:p.Trp331Ter
ENST00000368666.3:c.1047G>A
ENSP00000357655.3:p.Trp349Ter
ENST00000604763.2:c.993G>A
ENSP00000473777.1:p.Trp331Ter

Variation displays