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 11:67365224 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM066008

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_029_CLCF1_607672_0002, NM_013246.2:c.590G>T

This variation has 7 HGVS names - click the plus to show

11:g.67365224C>A
ENST00000622583.2:n.392-22311C>A
ENST00000312438.7:c.590G>T
ENSP00000309338.7:p.Arg197Leu
ENST00000543494.1:c.16+8300G>T
ENST00000533438.1:c.560G>T
ENSP00000434122.1:p.Arg187Leu

Variation displays