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 7:143321841 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930139

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

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

7:g.143321841G>A
ENST00000343257.3:c.689G>A
ENSP00000339867.2:p.Gly230Glu
ENST00000432192.2:c.147G>A
ENSP00000395949.1:p.Gly50Glu
ENST00000455478.2:c.147G>A
ENSP00000400027.1:p.Gly50Glu
ENST00000495612.1:n.147G>A

Variation displays