Original source

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

Alleles
G/C | Ancestral: G | Ambiguity code: S | MAF: < 0.01 (C)
Location

Chromosome 8:30999196 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CS961715

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NG_008870.1:g.113419G>C_1275968491, NM_000553.4:c.3139-1G>C

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

8:g.30999196G>C
ENST00000521620.1:n.1772-1G>C
ENST00000298139.5:c.3139-1G>C
LRG_524:g.113419G>C
LRG_524t1.1:c.3139-1G>C

Variation displays