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 6:121446899 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM030452

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 1372, 2010_April_001_061_GJA1_121014_0004

This variation has 3 HGVS names - click the plus to show

6:g.121446899T>C
ENST00000282561.3:c.52T>C
ENSP00000282561.3:p.Ser18Pro

Variation displays