Original source

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

Alleles
T/G | Ancestral: T | Ambiguity code: K
Location

Chromosome 7:100626830 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM024599

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_003227.3:c.2069A>C, 12815

This variation has 11 HGVS names - click the plus to show

7:g.100626830T>G
ENST00000465294.3:n.1989A>C
ENST00000490084.3:c.*913A>C
ENST00000461176.1:n.415A>C
ENST00000431692.3:c.*744A>C
ENST00000476304.3:n.1690A>C
ENST00000462107.1:c.2069A>C
ENSP00000420525.1:p.Gln690Pro
ENST00000462090.3:n.1105A>C
ENST00000223051.5:c.2069A>C
ENSP00000223051.3:p.Gln690Pro

Variation displays