Original source

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

Alleles
A/G/T | Ancestral: A | Ambiguity code: D | MAF: 0.16 (G)
Location

Chromosome 17:39723335 (forward strand) | View in location tab

Co-located

with COSMIC COSM4000121 (A/G) ; HGMD-PUBLIC CM004332

Most severe consequence
Evidence status

Clinical significance

This variation has 8 synonyms - click the plus to show

This variation has 40 HGVS names - click the plus to show

Variant allele T
17:g.39723335A>T
ENST00000578630.1:n.572A>T
ENST00000582818.3:c.281A>T
ENSP00000464252.1:p.Ile95Phe
ENST00000541774.3:c.1918A>T
ENSP00000446466.1:p.Ile640Phe
ENST00000583038.3:n.3097A>T
ENST00000580074.1:c.69A>T
ENSP00000463002.1:p.Ile24Phe
ENST00000445658.4:c.1135A>T
ENSP00000404047.2:p.Ile379Phe
ENST00000269571.7:c.1963A>T
ENSP00000269571.4:p.Ile655Phe
ENST00000406381.4:c.1873A>T
ENSP00000385185.2:p.Ile625Phe
ENST00000584450.3:c.1963A>T
ENSP00000463714.1:p.Ile655Phe
ENST00000578373.3:c.*1753A>T
ENST00000584601.3:c.1873A>T
ENSP00000462438.1:p.Ile625Phe

Variant allele G
17:g.39723335A>G
ENST00000578630.1:n.572A>G
ENST00000582818.3:c.281A>G
ENSP00000464252.1:p.Ile95Val
ENST00000541774.3:c.1918A>G
ENSP00000446466.1:p.Ile640Val
ENST00000583038.3:n.3097A>G
ENST00000580074.1:c.69A>G
ENSP00000463002.1:p.Ile24Val
ENST00000445658.4:c.1135A>G
ENSP00000404047.2:p.Ile379Val
ENST00000269571.7:c.1963A>G
ENSP00000269571.4:p.Ile655Val
ENST00000406381.4:c.1873A>G
ENSP00000385185.2:p.Ile625Val
ENST00000584450.3:c.1963A>G
ENSP00000463714.1:p.Ile655Val
ENST00000578373.3:c.*1753A>G
ENST00000584601.3:c.1873A>G
ENSP00000462438.1:p.Ile625Val

This variation has assays on 9 chips - click the plus to show

Variation displays