Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 7:114302130 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM012948

Most severe consequence
Clinical significance

Synonyms

LSDB 13111

This variation has 18 HGVS names - click the plus to show

7:g.114302130G>A
ENST00000408937.3:c.1733G>A
ENSP00000386200.3:p.Arg578His
ENST00000412402.1:c.*1376G>A
ENST00000393498.2:c.1595G>A
ENSP00000377135.2:p.Arg532His
ENST00000441290.2:c.*1658G>A
ENST00000393489.3:c.1382G>A
ENSP00000377129.3:p.Arg461His
ENST00000403559.4:c.1709G>A
ENSP00000385069.4:p.Arg570His
ENST00000393491.3:c.1103G>A
ENSP00000377130.3:p.Arg368His
ENST00000393494.2:c.1658G>A
ENSP00000377132.2:p.Arg553His
ENST00000350908.4:c.1658G>A
ENSP00000265436.7:p.Arg553His
ENST00000393500.3:c.*439G>A

Variation displays