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 12:40310434 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM044901, CM043518

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

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

Variant allele T
12:g.40310434C>T
ENST00000479187.2:n.1002C>T
ENST00000298910.8:c.4321C>T
ENSP00000298910.7:p.Arg1441Cys
ENST00000430804.2:c.*994C>T

Variant allele G
12:g.40310434C>G
ENST00000479187.2:n.1002C>G
ENST00000298910.8:c.4321C>G
ENSP00000298910.7:p.Arg1441Gly
ENST00000430804.2:c.*994C>G

Genotyping chips

This variation has assays on: Illumina_HumanOmni1-Quad

Variation displays