Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

Chromosome 5:74718921 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM910222

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 14252

HGVS names

This variant has 11 HGVS names - Hide

5:g.74718921A>C
ENST00000511181.5:c.692A>C
ENSP00000426285.1:p.Tyr231Ser
ENST00000503312.5:c.243A>C
ENSP00000426384.1:p.Tyr82Ser
ENST00000504459.5:n.564A>C
ENST00000261416.11:c.1367A>C
ENSP00000261416.7:p.Tyr456Ser
ENST00000513336.5:c.303A>C
ENSP00000423713.1:p.Tyr102Ser
ENST00000513539.1:n.86A>C

About this variant

This variant overlaps 14 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays