Original source

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

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

Chromosome 14:20943279 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM890083 ; PhenCode NPbase_D0064:g.6711G>C (G/C)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 4318, 2010_April_001_034_NP_164050_0002

This variation has 12 HGVS names - click the plus to show

14:g.20943279G>C
ENST00000554678.1:n.187-26C>G
ENST00000557229.1:n.949G>C
ENST00000553591.1:c.637G>C
ENSP00000452421.1:p.Ala213Pro
ENST00000556754.1:n.1737G>C
ENST00000361505.5:c.520G>C
ENSP00000354532.5:p.Ala174Pro
ENST00000554056.1:n.828G>C
LRG_91:g.10738G>C
LRG_91t1.1:c.520G>C
LRG_91p1.1:p.Ala174Pro

Variation displays