Original source

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

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

Chromosome 5:74720644 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM984151

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 14260

HGVS names

This variant has 14 HGVS names - Hide

5:g.74720644C>T
ENST00000511181.5:c.835C>T
ENSP00000426285.1:p.Pro279Ser
ENST00000509579.1:c.-54C>T
ENST00000505859.1:c.33C>T
ENSP00000424550.1:p.Pro12Ser
ENST00000503312.5:c.386C>T
ENSP00000426384.1:p.Pro130Ser
ENST00000504459.5:n.707C>T
ENST00000513336.5:c.446C>T
ENSP00000423713.1:p.Pro150Ser
ENST00000261416.11:c.1510C>T
ENSP00000261416.7:p.Pro504Ser
ENST00000513539.1:n.229C>T

About this variant

This variant overlaps 15 transcripts and is associated with 2 phenotypes.

Variant displays