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 4:186210586 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041502

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 15844, NM_207352.3:c.1523G>A

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

4:g.186210586G>A
ENST00000378802.4:c.1523G>A
ENSP00000368079.4:p.Arg508His
ENST00000511608.2:c.201+1314G>A
ENST00000502665.1:n.758G>A
ENST00000507209.2:n.6221G>A
ENST00000513354.2:n.613G>A

Variation displays