Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)
Location

Chromosome 5:74014629 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM952224, CS920760

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

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

5:g.74014629C>T
ENST00000511181.1:c.575C>T
ENSP00000426285.1:p.Pro192Leu
ENST00000503312.1:c.126C>T
ENSP00000426384.1:p.Pro43Leu
ENST00000504459.1:n.447C>T
ENST00000261416.7:c.1250C>T
ENSP00000261416.7:p.Pro417Leu
ENST00000513336.1:c.186C>T
ENSP00000423713.1:p.Pro63Leu
ENST00000513539.1:n.74-105C>T

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni5

Variation displays