Original source

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

Alleles
T/G|Ancestral: G|Ambiguity code: K|MAF: 0.30 (T)
Location

Chromosome 12:48001319 (forward strand)|View in location tab

Most severe consequence
 
Intron variant
Evidence status

Synonyms

Archive dbSNP rs57984266

HGVS names

This variant has 5 HGVS names - Hide

12:g.48001319T>G
ENST00000490609.1:n.251-1194A>C
ENST00000380518.7:c.86-1194A>C
ENST00000474996.6:n.214-225A>C
ENST00000337299.6:c.86-2888A>C

About this variant

This variant overlaps 7 transcripts, 1 regulatory feature, has 2514 sample genotypes and is mentioned in 5 citations.

Variant displays