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 5:74720648 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930399

Most severe consequence
Clinical significance

Synonyms

LSDB 14255

This variation has 14 HGVS names - click the plus to show

5:g.74720648G>A
ENST00000511181.3:c.839G>A
ENSP00000426285.1:p.Arg280Gln
ENST00000509579.1:c.-50G>A
ENST00000505859.1:c.37G>A
ENSP00000424550.1:p.Arg13Gln
ENST00000503312.3:c.390G>A
ENSP00000426384.1:p.Arg131Gln
ENST00000504459.3:n.711G>A
ENST00000513336.3:c.450G>A
ENSP00000423713.1:p.Arg151Gln
ENST00000261416.9:c.1514G>A
ENSP00000261416.7:p.Arg505Gln
ENST00000513539.1:n.233G>A

Variation displays