Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 1:16027432 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM081213

Most severe consequence
Clinical significance

Synonyms

LSDB 10726

This variation has 9 HGVS names - click the plus to show

1:g.16027432C>T
ENST00000331433.4:c.778C>T
ENSP00000332771.4:p.Gln260Ter
ENST00000464764.2:n.1341C>T
ENST00000439316.3:c.649C>T
ENSP00000414445.2:p.Gln217Ter
ENST00000375692.2:c.778C>T
ENSP00000364844.1:p.Gln260Ter
ENST00000491433.1:n.194C>T

Variation displays