Original source

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

Alleles
T/A | Ancestral: T | Ambiguity code: W
Location

Chromosome 8:96145173 (forward strand) | View in location tab

Most severe consequence
Clinical significance

Synonyms

LSDB 9957

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

8:g.96145173T>A
ENST00000287020.6:c.758A>T
ENSP00000287020.4:p.Gln253Leu
ENST00000620978.1:c.707-11A>T
ENST00000621429.1:c.758A>T
ENSP00000483711.1:p.Gln253Leu

Variation displays