Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome 5:143282014 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM074389

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2198

HGVS names

This variant has 16 HGVS names - Hide

5:g.143282014A>G
ENST00000394464.6:c.2209T>C
ENSP00000377977.2:p.Phe737Leu
ENST00000231509.7:c.2212T>C
ENSP00000231509.3:p.Phe738Leu
ENST00000343796.6:c.2209T>C
ENSP00000343205.2:p.Phe737Leu
ENST00000503201.1:c.2209T>C
ENSP00000427672.1:p.Phe737Leu
ENST00000504572.5:c.2212T>C
ENSP00000422518.1:p.Phe738Leu
ENST00000415690.6:c.2181+554T>C
ENST00000394466.6:c.2212T>C
ENSP00000377979.2:p.Phe738Leu
ENST00000424646.6:c.2131T>C
ENSP00000405282.2:p.Phe711Leu

About this variant

This variant overlaps 8 transcripts and is associated with 2 phenotypes.

Variant displays