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 4:987842 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930423

Most severe consequence
Clinical significance

Synonyms

LSDB 6447

This variation has 12 HGVS names - click the plus to show

4:g.987842C>A
ENST00000514698.3:n.199+600C>A
ENST00000508168.3:n.177+600C>A
ENST00000398520.4:c.576+3286G>T
ENST00000504568.3:c.190C>A
ENSP00000424847.1:p.Thr64Lys
ENST00000622731.2:c.576+3286G>T
ENST00000506561.3:n.201C>A
ENST00000361661.4:c.*991G>T
ENST00000502910.3:c.158+600C>A
ENST00000247933.6:c.192C>A
ENSP00000247933.4:p.Tyr64Ter

Variation displays