Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
T/C/G|Ancestral: T|Ambiguity code: B|MAF: 0.13 (G)
Location

Chromosome 1:113812320 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CR053507

Most severe consequence
 
Synonymous variant
Evidence status

HGVS names

This variant has 10 HGVS names - Hide

Variant allele C
1:g.113812320T>C
ENST00000261441.9:c.93A>G
ENST00000261441.9:c.93A>G(p.=)
ENST00000612242.4:c.93A>G
ENST00000612242.4:c.93A>G(p.=)

Variant allele G
1:g.113812320T>G
ENST00000261441.9:c.93A>C
ENST00000261441.9:c.93A>C(p.=)
ENST00000612242.4:c.93A>C
ENST00000612242.4:c.93A>C(p.=)

Genotyping chips

This variant has assays on 6 chips - Show

About this variant

This variant overlaps 26 transcripts, 1 regulatory feature, has 2756 sample genotypes and is mentioned in 24 citations.

Variant displays