Allele/Variant

rs369492511

Species
Homo sapiens
Symbol
rs369492511
Category
Variant
Variant type
SNP
Overlaps
GMDS
Location
6:2117477
Nucleotide Change
A>G
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)6:2117477A>G
HGVS.c name
  • ENSEMBL:ENST00000380815.5:c.227T>C
  • ENSEMBL:ENST00000530927.5:c.137T>C
HGVS.p name
  • ENSP00000370194:p.Ile76Thr
  • ENSP00000436726:p.Ile46Thr
Synonyms
Not Available
Notes
Not Available
Cross references
Not Available
References
Not Available

Genome location
Assembly version
Not Available
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Variant Molecular Consequences

Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
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