Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M
Location

Chromosome 11:17427124 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM961360

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 9246, NG_008867.1:g.54779G>T_1278134232

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

11:g.17427124C>A
ENST00000527905.2:c.2117G>T
ENSP00000431653.1:p.Gly706Val
ENST00000389817.4:c.2147G>T
ENSP00000374467.3:p.Gly716Val
ENST00000531911.1:n.258G>T
ENST00000302539.5:c.2147G>T
ENSP00000303960.4:p.Gly716Val

Variation displays