Original source

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

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

Chromosome 7:114642616 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM051480

Most severe consequence
Clinical significance

Synonyms

LSDB 13112

This variation has 23 HGVS names - click the plus to show

7:g.114642616C>T
ENST00000360232.6:c.982C>T
ENSP00000353367.4:p.Arg328Ter
ENST00000441290.4:c.*827C>T
ENST00000378237.5:c.982C>T
ENSP00000367482.3:p.Arg328Ter
ENST00000393489.5:c.706C>T
ENSP00000377129.3:p.Arg236Ter
ENST00000408937.5:c.1057C>T
ENSP00000386200.3:p.Arg353Ter
ENST00000412402.3:c.*902C>T
ENST00000393498.4:c.919C>T
ENSP00000377135.2:p.Arg307Ter
ENST00000390668.3:c.1054C>T
ENSP00000375084.3:p.Arg352Ter
ENST00000393491.5:c.706C>T
ENSP00000377130.3:p.Arg236Ter
ENST00000403559.6:c.1033C>T
ENSP00000385069.4:p.Arg345Ter
ENST00000350908.6:c.982C>T
ENSP00000265436.7:p.Arg328Ter
ENST00000393494.4:c.982C>T
ENSP00000377132.2:p.Arg328Ter

Variation displays