Original source

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

Alleles
T/G | Ancestral: T | Ambiguity code: K
Location

Chromosome 1:173911923 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990199

Most severe consequence
Clinical significance

Synonyms

LSDB 377

This variation has 6 HGVS names - click the plus to show

1:g.173911923T>G
ENST00000367698.3:c.500A>C
ENSP00000356671.3:p.Asn167Thr
ENST00000487183.1:n.205A>C
ENST00000617423.2:c.500A>C
ENSP00000478688.1:p.Asn167Thr

Variation displays