Original source

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

Alleles
T/A | Ancestral: T | Ambiguity code: W
Location

Chromosome 17:44915258 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM013267 ; PhenCode HIFD_GFAP:c.229A>T (T/A)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 19 HGVS names - click the plus to show

17:g.44915258T>A
ENST00000585728.3:c.181+48A>T
ENST00000588316.1:c.229A>T
ENSP00000465629.1:p.Asn77Tyr
ENST00000591327.1:n.243A>T
ENST00000588957.3:c.-272+559A>T
ENST00000376990.6:c.229A>T
ENSP00000366189.4:p.Asn77Tyr
ENST00000592320.3:c.229A>T
ENSP00000465320.1:p.Asn77Tyr
ENST00000435360.4:c.229A>T
ENSP00000403962.1:p.Asn77Tyr
ENST00000253408.7:c.229A>T
ENSP00000253408.4:p.Asn77Tyr
ENST00000586793.3:c.229A>T
ENSP00000468500.1:p.Asn77Tyr
ENST00000588037.1:c.229A>T
ENSP00000466163.1:p.Asn77Tyr
ENST00000588735.1:c.82+147A>T

Variation displays