Original source

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

Alleles
T/G | Ancestral: T | Ambiguity code: K
Location

Chromosome 2:241742524 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM050361

Most severe consequence
Clinical significance

Synonyms

LSDB 16167

This variation has 13 HGVS names - click the plus to show

2:g.241742524T>G
ENST00000400769.4:c.440T>G
ENSP00000383580.2:p.Ile147Ser
ENST00000436747.3:c.440T>G
ENSP00000400212.1:p.Ile147Ser
ENST00000321264.6:c.440T>G
ENSP00000315351.4:p.Ile147Ser
ENST00000437164.1:c.92T>G
ENSP00000412511.1:p.Ile31Ser
ENST00000454048.1:c.50T>G
ENSP00000404596.1:p.Ile17Ser
ENST00000403782.3:c.38T>G
ENSP00000384723.1:p.Ile13Ser

Variation displays