Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 4:1002117 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930426

Most severe consequence
Clinical significance

Synonyms

LSDB 6448

This variation has 6 HGVS names - click the plus to show

4:g.1002117C>T
ENST00000514224.1:c.532C>T
ENSP00000425081.1:p.Gln178Ter
ENST00000514698.3:n.928C>T
ENST00000247933.6:c.1863_1864delAGinsA
ENSP00000247933.4:p.Ala622ProfsTer?

Variation displays