Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

Chromosome 1:173904044 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM880010, CD994760

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 354

HGVS names

This variant has 8 HGVS names - Hide

1:g.173904044C>T
ENST00000367698.3:c.1240G>A
ENSP00000356671.3:p.Ala414Thr
ENST00000617423.4:c.625G>A
ENSP00000478688.1:p.Ala209Thr
LRG_577:g.18335G>A
LRG_577t1:c.1240G>A
LRG_577p1:p.Ala414Thr

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays