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 5:60944972 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM043838

Most severe consequence
Clinical significance

Synonyms

LSDB 16309

This variation has 11 HGVS names - click the plus to show

5:g.60944972C>A
ENST00000265038.6:c.37G>T
ENSP00000265038.5:p.Glu13Ter
ENST00000439176.2:c.-180G>T
ENST00000497892.2:n.80G>T
ENST00000477893.1:n.88G>T
ENST00000381118.4:c.37G>T
ENSP00000370510.3:p.Glu13Ter
LRG_466:g.5107G>T
LRG_466t1.1:c.37G>T
LRG_466p1.1:p.Glu13Ter

Variation displays