Original source

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

Alleles
G/A/T | Ancestral: G | Ambiguity code: D
Location

Chromosome 10:70598687 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM992954 ; PhenCode PRF1base_D0067:g.5489C>T (G/A)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 16 HGVS names - click the plus to show

Variant allele A
10:g.70598687G>A
ENST00000373209.2:c.1034C>T
ENSP00000362305.1:p.Pro345Leu
ENST00000441259.1:c.1034C>T
ENSP00000398568.1:p.Pro345Leu
LRG_94:g.9089C>T
LRG_94t1:c.1034C>T
LRG_94p1:p.Pro345Leu

Variant allele T
10:g.70598687G>T
ENST00000373209.2:c.1034C>A
ENSP00000362305.1:p.Pro345His
ENST00000441259.1:c.1034C>A
ENSP00000398568.1:p.Pro345His
LRG_94:g.9089C>A
LRG_94t1:c.1034C>A
LRG_94p1:p.Pro345His

Variation displays