Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

Alleles
A/C/T | Ancestral: A | Ambiguity code: H | MAF: 0.32 (C)
Location

Chromosome 1:154426970 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM034737

Most severe consequence
Evidence status

Clinical significance

This variation has 7 synonyms - click the plus to show

This variation has 16 HGVS names - click the plus to show

Variant allele T
1:g.154426970A>T
ENST00000507256.1:n.271A>T
ENST00000368485.3:c.1073A>T
ENSP00000357470.3:p.Asp358Val
ENST00000344086.4:c.1066+4514A>T
ENST00000502679.1:n.386A>T
ENST00000515190.1:c.481A>T
ENSP00000423036.1:p.Asp161Val

Variant allele C
1:g.154426970A>C
ENST00000507256.1:n.271A>C
ENST00000368485.3:c.1073A>C
ENSP00000357470.3:p.Asp358Ala
ENST00000344086.4:c.1066+4514A>C
ENST00000502679.1:n.386A>C
ENST00000515190.1:c.481A>C
ENSP00000423036.1:p.Asp161Ala

This variation has assays on 7 chips - click the plus to show

Variation displays