Original source

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

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

Chromosome 5:131722736 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CD021845, CM991137

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 11837

This variation has 11 HGVS names - click the plus to show

5:g.131722736C>T
ENST00000245407.3:c.844C>T
ENSP00000245407.3:p.Arg282Ter
ENST00000437841.2:c.*159C>T
ENST00000435065.2:c.916C>T
ENSP00000402760.2:p.Arg306Ter
ENST00000461013.1:n.8266C>T
ENST00000415928.1:c.613C>T
ENSP00000388838.1:p.Arg205Ter
ENST00000448810.1:c.192C>T
ENSP00000401860.1:p.Arg65Ter

Variation displays