Original source

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

Alleles
C/G | Ancestral: C | Ambiguity code: S
Location

Chromosome 3:57199901 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM010054

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 10626

This variation has 7 HGVS names - click the plus to show

3:g.57199901C>G
ENST00000473921.2:c.18G>C
ENSP00000418918.1:p.Gln6His
ENST00000295934.5:c.18G>C
ENSP00000295934.3:p.Gln6His
ENST00000495160.2:c.18G>C
ENSP00000419615.2:p.Gln6His

Variation displays