Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 1:173909564 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920112

Most severe consequence
Clinical significance

Synonyms

LSDB 368

This variation has 4 HGVS names - click the plus to show

1:g.173909564A>G
ENST00000367698.3:c.1141T>C
ENSP00000356671.3:p.Ser381Pro
ENST00000617423.1:c.560-2071T>C

Variation displays