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 1:235830270 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM970310 ; PhenCode LYSTbase_D0020:g.37656C>T (G/A)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 14321, NM_000081.2:c.148C>T

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

1:g.235830270G>A
ENST00000489585.3:n.699C>T
ENST00000468107.3:n.675C>T
ENST00000465349.3:n.699C>T
ENST00000468626.2:n.279C>T
ENST00000389794.5:c.148C>T
ENSP00000374444.4:p.Arg50Ter
ENST00000389793.4:c.148C>T
ENSP00000374443.2:p.Arg50Ter

Variation displays