Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

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

Chromosome 1:45014017 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981991

Most severe consequence
Clinical significance

Synonyms

LSDB 4807

This variation has 17 HGVS names - click the plus to show

1:g.45014017C>T
ENST00000462688.2:n.710C>T
ENST00000428106.1:c.454+226C>T
ENST00000469548.2:n.779C>T
ENST00000494399.2:n.723C>T
ENST00000478467.2:n.586C>T
ENST00000434478.2:c.520C>T
ENSP00000404489.1:p.Leu174Phe
ENST00000486699.2:n.703C>T
ENST00000490385.2:n.657C>T
ENST00000460334.2:n.610C>T
ENST00000496439.1:n.679C>T
ENST00000491300.2:n.702C>T
ENST00000473012.1:n.630C>T
ENST00000246337.5:c.583C>T
ENSP00000246337.4:p.Leu195Phe
ENST00000460906.2:n.717C>T

Variation displays