Original source

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

Alleles
T/G|Ancestral: T|Ambiguity code: K
Location

Chromosome 1:173911923 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM990199

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 377

HGVS names

This variant has 9 HGVS names - Hide

1:g.173911923T>G
ENST00000487183.1:n.205A>C
ENST00000367698.3:c.500A>C
ENSP00000356671.3:p.Asn167Thr
ENST00000617423.4:c.500A>C
ENSP00000478688.1:p.Asn167Thr
LRG_577:g.10456A>C
LRG_577t1:c.500A>C
LRG_577p1:p.Asn167Thr

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays