Original source

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

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

Chromosome 1:36098318 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM013254

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 1220, 2009_August_001_026_COL8A2_120252_0001

This variation has 8 HGVS names - click the plus to show

1:g.36098318G>T
ENST00000303143.5:c.1363C>A
ENSP00000305913.4:p.Gln455Lys
ENST00000481785.1:c.1168C>A
ENSP00000436433.1:p.Gln390Lys
ENST00000615990.1:c.773-238C>A
ENST00000397799.1:c.1363C>A
ENSP00000380901.1:p.Gln455Lys

Variation displays