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 1:173911981 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930051

Most severe consequence
Clinical significance

Synonyms

LSDB 375

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

1:g.173911981A>G
ENST00000494024.1:n.668T>C
ENST00000367698.3:c.442T>C
ENSP00000356671.3:p.Ser148Pro
ENST00000487183.1:n.147T>C
ENST00000617423.1:c.442T>C
ENSP00000478688.1:p.Ser148Pro

Variation displays