Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H
Location

Chromosome 1:173911941 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM900039

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 366

HGVS names

This variant has 18 HGVS names - Hide

Variant allele A
1:g.173911941C>A
ENST00000367698.3:c.482G>T
ENSP00000356671.3:p.Arg161Leu
ENST00000487183.1:n.187G>T
ENST00000617423.4:c.482G>T
ENSP00000478688.1:p.Arg161Leu
LRG_577:g.10438G>T
LRG_577t1:c.482G>T
LRG_577p1:p.Arg161Leu

Variant allele T
1:g.173911941C>T
ENST00000367698.3:c.482G>A
ENSP00000356671.3:p.Arg161Gln
ENST00000487183.1:n.187G>A
ENST00000617423.4:c.482G>A
ENSP00000478688.1:p.Arg161Gln
LRG_577:g.10438G>A
LRG_577t1:c.482G>A
LRG_577p1:p.Arg161Gln

About this variant

This variant overlaps 10 transcripts and is associated with 3 phenotypes.

Variant displays