Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 16:3243205 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981247

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 21 HGVS names - click the plus to show

16:g.3243205C>T
ENST00000538326.4:c.*907G>A
ENST00000621655.1:c.*583G>A
ENST00000219596.4:c.2282G>A
ENSP00000219596.1:p.Arg761His
ENST00000576315.4:c.*799G>A
ENST00000536980.4:c.*558G>A
ENST00000536379.4:c.1649G>A
ENSP00000445079.1:p.Arg550His
ENST00000339854.7:c.1742G>A
ENSP00000339639.4:p.Arg581His
ENST00000570511.4:c.*766G>A
ENST00000541159.4:c.*486G>A
ENST00000574583.4:c.*766G>A
ENST00000542898.4:c.*558G>A
ENST00000572244.4:c.*666G>A
ENST00000537682.4:c.*558G>A
ENST00000539145.4:c.*915G>A
LRG_190:g.18423G>A
LRG_190t1:c.2282G>A
LRG_190p1:p.Arg761His

About this variant

This variant overlaps 16 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variation displays