Original source

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

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

Chromosome 17:42992621 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM032930

Most severe consequence
Clinical significance

Synonyms

LSDB 2175

This variation has 19 HGVS names - click the plus to show

17:g.42992621G>T
ENST00000585728.1:c.181+53C>A
ENST00000588316.1:c.234C>A
ENSP00000465629.1:p.Asp78Glu
ENST00000591327.1:n.248C>A
ENST00000588957.1:c.-272+564C>A
ENST00000376990.4:c.234C>A
ENSP00000366189.4:p.Asp78Glu
ENST00000592320.1:c.234C>A
ENSP00000465320.1:p.Asp78Glu
ENST00000253408.5:c.234C>A
ENSP00000253408.4:p.Asp78Glu
ENST00000435360.2:c.234C>A
ENSP00000403962.1:p.Asp78Glu
ENST00000586793.1:c.234C>A
ENSP00000468500.1:p.Asp78Glu
ENST00000588037.1:c.234C>A
ENSP00000466163.1:p.Asp78Glu
ENST00000588735.1:c.82+152C>A

Variation displays