Original source

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

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

Chromosome 17:44911308 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM032580 ; PhenCode HIFD_GFAP:c.1055T>C (A/G)

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 15 HGVS names - click the plus to show

17:g.44911308A>G
ENST00000587997.3:c.531T>C
ENSP00000465624.1:p.Leu178Pro
ENST00000376990.6:c.*454T>C
ENST00000592320.3:c.632T>C
ENSP00000465320.1:p.Leu211Pro
ENST00000435360.4:c.1055T>C
ENSP00000403962.1:p.Leu352Pro
ENST00000253408.7:c.1055T>C
ENSP00000253408.4:p.Leu352Pro
ENST00000586793.3:c.1055T>C
ENSP00000468500.1:p.Leu352Pro
ENST00000588640.3:n.435T>C
ENST00000585543.3:n.208T>C
ENST00000588735.1:c.83-3192T>C

Variation displays