Original source

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

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

Chromosome 5:131724712 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM002863

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 12 HGVS names - click the plus to show

5:g.131724712T>C
ENST00000245407.3:c.1051T>C
ENSP00000245407.3:p.Trp351Arg
ENST00000435065.2:c.1123T>C
ENSP00000402760.2:p.Trp375Arg
ENST00000475308.1:n.61T>C
ENST00000461013.1:n.8473T>C
ENST00000447841.1:c.110T>C
ENSP00000389284.1:p.Ter38ArgextTer99
ENST00000479605.1:n.154T>C
ENST00000448810.1:c.399T>C
ENSP00000401860.1:p.Cys134Arg

Variation displays