Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 19:41342230 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM002412

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 5755, 2010_April_001_106_TGFB1_190180_0003, NM_000660.4:c.652C>T

This variation has 5 HGVS names - click the plus to show

19:g.41342230G>A
ENST00000597453.1:n.183C>T
ENST00000221930.5:c.652C>T
ENSP00000221930.4:p.Arg218Cys
ENST00000600196.1:n.112C>T

Variation displays