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 6:112069555 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC HM040052

Most severe consequence
Clinical significance

Synonyms

LSDB 11876

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

6:g.112069555T>C
ENST00000361714.3:c.1000T>C
ENSP00000354734.2:p.Ser334Pro
ENST00000620524.1:c.*306T>C
ENST00000409166.3:c.328T>C
ENSP00000386467.1:p.Ser110Pro
ENST00000454589.3:c.*404T>C
ENST00000368663.3:c.931T>C
ENSP00000357652.3:p.Ser311Pro
ENST00000613648.1:n.835T>C
ENST00000368664.5:c.*404T>C
ENST00000230529.7:c.1000T>C
ENSP00000230529.5:p.Ser334Pro
ENST00000368666.4:c.1054T>C
ENSP00000357655.3:p.Ser352Pro
ENST00000604763.3:c.1000T>C
ENSP00000473777.1:p.Ser334Pro

Variation displays