Original source

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

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome 8:22164028 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM093906

Most severe consequence
Clinical significance

Synonyms

LSDB 5087

This variation has 9 HGVS names - click the plus to show

8:g.22164028T>C
ENST00000521315.3:c.563T>C
ENSP00000430410.1:p.Leu188Pro
ENST00000520605.3:c.277-238T>C
ENST00000437090.4:c.*208T>C
ENST00000524255.3:c.422T>C
ENSP00000429552.1:p.Leu141Pro
ENST00000318561.5:c.581T>C
ENSP00000316152.3:p.Leu194Pro

Variation displays