Original source

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

Alleles
T/G | Ancestral: G | Ambiguity code: K | MAF: 0.29 (T)
Location

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

Most severe consequence
Evidence status

Synonyms

Archive dbSNP rs57984266

This variation has 5 HGVS names - click the plus to show

12:g.48001319T>G
ENST00000490609.1:n.251-1194A>C
ENST00000380518.4:c.86-1194A>C
ENST00000474996.3:n.214-225A>C
ENST00000337299.6:c.86-2888A>C

Variation displays