Original source

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

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

Chromosome 17:81510709 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM063834

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_008_ACTG1_102560_0006

This variation has 16 HGVS names - click the plus to show

17:g.81510709A>G
ENST00000576209.4:n.994T>C
ENST00000576917.4:n.1241T>C
ENST00000575842.4:c.1109T>C
ENSP00000458162.1:p.Val370Ala
ENST00000615544.3:c.1109T>C
ENSP00000477968.1:p.Val370Ala
ENST00000573283.4:c.1109T>C
ENSP00000458435.1:p.Val370Ala
ENST00000574671.4:n.968T>C
ENST00000331925.5:c.1109T>C
ENSP00000331514.2:p.Val370Ala
ENST00000575087.4:c.1109T>C
ENSP00000459124.1:p.Val370Ala
ENST00000576544.4:c.1109T>C
ENSP00000461672.1:p.Val370Ala

About this variant

This variant overlaps 20 transcripts and is associated with 2 phenotypes.

Variation displays