Original source

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

Alleles
A/T | Ancestral: A | Ambiguity code: W | MAF: < 0.01 (T)
Location

Chromosome 3:165547750 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950134

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 10 HGVS names - click the plus to show

3:g.165547750A>T
ENST00000482958.1:c.1072T>A
ENSP00000419804.1:p.Leu358Ile
ENST00000264381.3:c.1072T>A
ENSP00000264381.3:p.Leu358Ile
ENST00000540653.1:c.-98+7352T>A
ENST00000479451.1:c.107+7352T>A
ENST00000488954.1:c.107+7352T>A
ENST00000497011.1:c.1072T>A
ENSP00000419505.1:p.Leu358Ile

Variation displays