Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

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

Chromosome 5:60198273 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM043839

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 14 HGVS names - click the plus to show

5:g.60198273C>G
ENST00000265038.5:c.613G>C
ENSP00000265038.5:p.Ala205Pro
ENST00000495985.1:n.390G>C
ENST00000543101.1:c.154G>C
ENSP00000441732.1:p.Ala52Pro
ENST00000426742.2:c.439G>C
ENSP00000400110.2:p.Ala147Pro
ENST00000484330.1:n.289G>C
ENST00000462279.1:n.458G>C
ENST00000381118.3:c.*657G>C
LRG_466:g.47633G>C
LRG_466t1.1:c.613G>C
LRG_466p1.1:p.Ala205Pro

Variation displays