Original source

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

Alleles
C/G/T | Ancestral: C | Ambiguity code: B
Location

Chromosome 4:1004292 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM940974

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 6451

This variation has 12 HGVS names - click the plus to show

Variant allele T
4:g.1004292C>T
ENST00000514224.1:c.1465C>T
ENSP00000425081.1:p.Arg489Ter
ENST00000514698.3:n.1972C>T
ENST00000247933.6:c.1863_1864delAGinsA
ENSP00000247933.4:p.Ala622ProfsTer?

Variant allele G
4:g.1004292C>G
ENST00000514224.1:c.1465C>G
ENSP00000425081.1:p.Arg489Gly
ENST00000514698.3:n.1972C>G
ENST00000247933.6:c.1861C>G
ENSP00000247933.4:p.Arg621Gly

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays