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 17:42223478 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM065474 ; PhenCode STAT5Bbase_D0082:g.53986C>T (G/A)

Most severe consequence
Clinical significance

Synonyms

LSDB 12525

This variation has 9 HGVS names - click the plus to show

17:g.42223478G>A
ENST00000468312.1:n.623C>T
ENST00000293328.5:c.454C>T
ENSP00000293328.3:p.Arg152Ter
ENST00000415845.1:c.454C>T
ENSP00000398379.1:p.Arg152Ter
LRG_192:g.57929C>T
LRG_192t1.1:c.454C>T
LRG_192p1.1:p.Arg152Ter

Variation displays