Original source

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

Alleles
A/C | Ancestral: A | Ambiguity code: M | MAF: < 0.01 (C)
Location

Chromosome 5:74014746 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM910222

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 14252

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

5:g.74014746A>C
ENST00000511181.1:c.692A>C
ENSP00000426285.1:p.Tyr231Ser
ENST00000503312.1:c.243A>C
ENSP00000426384.1:p.Tyr82Ser
ENST00000504459.1:n.564A>C
ENST00000513336.1:c.303A>C
ENSP00000423713.1:p.Tyr102Ser
ENST00000261416.7:c.1367A>C
ENSP00000261416.7:p.Tyr456Ser
ENST00000513539.1:n.86A>C

Variation displays