Original source

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

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

Chromosome 4:1003108 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950686

Most severe consequence
Clinical significance

Synonyms

LSDB 6452

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

4:g.1003108G>C
ENST00000514224.1:c.1079G>C
ENSP00000425081.1:p.Arg360Pro
ENST00000514698.2:n.1582G>C
ENST00000247933.5:c.1475G>C
ENSP00000247933.4:p.Arg492Pro
ENST00000502829.1:n.277G>C

Variation displays