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 4:1002333 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM000404

Most severe consequence
Clinical significance

Synonyms

LSDB 6461

This variation has 6 HGVS names - click the plus to show

4:g.1002333T>G
ENST00000514224.1:c.641T>G
ENSP00000425081.1:p.Leu214Arg
ENST00000514698.2:n.1144T>G
ENST00000247933.5:c.1037T>G
ENSP00000247933.4:p.Leu346Arg

Variation displays