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 5:132392598 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM991138

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 11840

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

5:g.132392598C>T
ENST00000435065.3:c.1505C>T
ENSP00000402760.2:p.Pro502Leu
ENST00000461013.2:n.8855C>T
ENST00000475308.1:n.2111C>T
ENST00000447841.2:c.*165C>T
ENST00000479605.2:n.536C>T
ENST00000245407.4:c.1433C>T
ENSP00000245407.3:p.Pro478Leu
ENST00000448810.2:c.*285C>T

Variation displays