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 8:43182162 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM065262

Most severe consequence
Clinical significance

Synonyms

LSDB 16749

This variation has 10 HGVS names - click the plus to show

8:g.43182162C>T
ENST00000522082.3:c.271C>T
ENSP00000430151.1:p.Arg91Cys
ENST00000521576.1:c.181C>T
ENSP00000429029.1:p.Arg61Cys
ENST00000379644.6:c.1030C>T
ENSP00000368965.4:p.Arg344Cys
ENST00000519000.1:n.516C>T
ENST00000524016.3:c.134C>T
ENSP00000428322.1:p.Arg46Cys

Variation displays