Original source

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

Alleles
G/A/C | Ancestral: G | Ambiguity code: V | MAF: < 0.01 (C)
Location

Chromosome 17:4901944 (forward strand) | View in location tab

Co-located

with COSMIC COSM178997 (G/A) ; HGMD-PUBLIC CM962727

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 46

This variation has 10 HGVS names - click the plus to show

Variant allele A
17:g.4901944G>A
ENST00000575637.1:n.274+35C>T
ENST00000293780.4:c.488C>T
ENSP00000293780.4:p.Ser163Leu
ENST00000381365.3:c.*1411G>A

Variant allele C
17:g.4901944G>C
ENST00000575637.1:n.274+35C>G
ENST00000293780.4:c.488C>G
ENSP00000293780.4:p.Ser163Trp
ENST00000381365.3:c.*1411G>C

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays