Original source

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

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

Chromosome 17:65536495 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041253

Most severe consequence
Clinical significance

Synonyms

LSDB 12344

This variation has 12 HGVS names - click the plus to show

17:g.65536495G>A
ENST00000375702.5:c.1771C>T
ENSP00000364854.5:p.Arg591Ter
ENST00000618960.2:c.1771C>T
ENSP00000478916.1:p.Arg591Ter
ENST00000578251.1:n.188C>T
ENST00000307078.7:c.1966C>T
ENSP00000302625.5:p.Arg656Ter
ENST00000611991.1:c.397-7795C>T
LRG_296:g.30128C>T
LRG_296t1:c.1966C>T
LRG_296p1:p.Arg656Ter

Variation displays