Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: 0.07 (T)
Location

Chromosome 14:61740839 (forward strand)|View in location tab

Co-located variants

COSMIC COSM5019750 ; HGMD-PUBLIC CM035511

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 15 HGVS names - Hide

14:g.61740839C>T
ENST00000555937.1:n.148+6554C>T
ENST00000539097.2:c.1816C>T
ENSP00000437955.1:p.Pro606Ser
ENST00000554254.1:n.213+10046G>A
ENST00000547430.2:n.652C>T
ENST00000337138.8:c.1744C>T
ENSP00000338018.4:p.Pro582Ser
ENST00000323441.10:c.1744C>T
ENSP00000323326.6:p.Pro582Ser
ENST00000555014.1:n.390C>T
ENST00000557538.5:c.1567C>T
ENSP00000451696.1:p.Pro523Ser
ENST00000394997.5:c.1747C>T
ENSP00000378446.1:p.Pro583Ser

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 10 transcripts, has 4069 sample genotypes and is mentioned in 51 citations.

Variant displays