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 12:21643971 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920402

Most severe consequence
Clinical significance

Synonyms

LSDB 3771

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

12:g.21643971T>G
ENST00000396076.2:c.385A>C
ENSP00000379386.1:p.Ser129Arg
ENST00000450584.2:c.385A>C
ENSP00000398015.1:p.Ser129Arg
ENST00000470280.1:n.284A>C
ENST00000350669.2:c.385A>C
ENSP00000229319.1:p.Ser129Arg
ENST00000396075.2:c.385A>C
ENSP00000379385.1:p.Ser129Arg

Variation displays