Original source

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

Alleles
A/T | Ancestral: A | Ambiguity code: W
Location

Chromosome 21:37833740 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM011286

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2009_August_001_004_CLDN14_605608_0002, 13320

This variation has 13 HGVS names - click the plus to show

21:g.37833740A>T
ENST00000399136.1:c.254T>A
ENSP00000382088.1:p.Val85Asp
ENST00000342108.2:c.254T>A
ENSP00000339292.2:p.Val85Asp
ENST00000428667.1:n.277+15435A>T
ENST00000399135.1:c.254T>A
ENSP00000382087.1:p.Val85Asp
ENST00000399139.1:c.254T>A
ENSP00000382092.1:p.Val85Asp
ENST00000429588.1:n.54-18789A>T
ENST00000399137.1:c.254T>A
ENSP00000382090.1:p.Val85Asp

Variation displays