Original source

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

Alleles
A/C | Ancestral: A | Ambiguity code: M
Location

Chromosome 4:996180 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930427

Most severe consequence
Clinical significance

Synonyms

LSDB 6449

This variation has 8 HGVS names - click the plus to show

4:g.996180A>C
ENST00000514224.1:c.700A>C
ENSP00000425081.1:p.Thr234Pro
ENST00000514698.1:n.1203A>C
ENST00000453894.1:c.1162A>C
ENSP00000396458.1:p.Thr388Pro
ENST00000247933.4:c.1096A>C
ENSP00000247933.4:p.Thr366Pro

Variation displays