Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 1:17022648 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM020970

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 5498, 2009_August_001_243_SDHB_185470_0004

This variation has 9 HGVS names - click the plus to show

1:g.17022648C>T
ENST00000475049.2:n.150G>A
ENST00000485092.2:n.389G>A
ENST00000485515.2:n.659G>A
ENST00000375499.4:c.725G>A
ENSP00000364649.3:p.Arg242His
LRG_316:g.36523G>A
LRG_316t1.1:c.725G>A
LRG_316p1.1:p.Arg242His

Variation displays