Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: < 0.01 (A)
Location

Chromosome 5:74721131 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM970723

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 14257

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

5:g.74721131G>A
ENST00000511181.4:c.952G>A
ENSP00000426285.1:p.Ala318Thr
ENST00000509579.1:c.64G>A
ENSP00000424939.1:p.Ala22Thr
ENST00000505859.1:c.137-187G>A
ENST00000503312.4:c.490-187G>A
ENST00000513867.1:n.75G>A
ENST00000513336.4:c.563G>A
ENSP00000423713.1:p.Ala189Thr
ENST00000261416.10:c.1627G>A
ENSP00000261416.7:p.Ala543Thr
ENST00000513539.1:n.346G>A

Genotyping chips

This variation has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 16 transcripts, has 2504 individual genotypes and is associated with 2 phenotypes.

Variation displays