Original source

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

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

Chromosome 19:41352804 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM002870

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 5756, NM_000660.4:c.241T>C, 2010_April_001_107_TGFB1_190180_0004

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

19:g.41352804A>G
ENST00000221930.5:c.241T>C
ENSP00000221930.4:p.Tyr81His
ENST00000539627.2:c.-30+1602A>G
ENST00000604424.1:n.350+1602A>G

Variation displays