Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: < 0.01 (A)
Location

Chromosome 6:74354306 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM993211

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 12591, NM_012434.4:c.115C>T

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

6:g.74354306G>A
ENST00000355773.5:c.115C>T
ENSP00000348019.5:p.Arg39Cys
ENST00000393019.3:c.115C>T
ENSP00000376742.3:p.Arg39Cys

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays