Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
G/C | Ancestral: G | Ambiguity code: S
Location

Chromosome 17:81510824 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM032828

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_005_ACTG1_102560_0003

This variation has 17 HGVS names - click the plus to show

17:g.81510824G>C
ENST00000576209.3:n.879C>G
ENST00000572105.4:c.*438C>G
ENST00000576917.3:n.1126C>G
ENST00000575842.3:c.994C>G
ENSP00000458162.1:p.Pro332Ala
ENST00000615544.2:c.994C>G
ENSP00000477968.1:p.Pro332Ala
ENST00000573283.3:c.994C>G
ENSP00000458435.1:p.Pro332Ala
ENST00000331925.4:c.994C>G
ENSP00000331514.2:p.Pro332Ala
ENST00000574671.3:n.853C>G
ENST00000575087.3:c.994C>G
ENSP00000459124.1:p.Pro332Ala
ENST00000576544.3:c.994C>G
ENSP00000461672.1:p.Pro332Ala

Variation displays