Allele/Variant

rs1193814930

Species
Homo sapiens
Symbol
rs1193814930
Category
Variant
Variant type
SNP
Overlaps
ECPAS
Location
9:111363650
Nucleotide Change
G>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)9:111363650G>A
HGVS.c name
  • ENSEMBL:ENST00000259335.8:c.5852C>T
  • ENSEMBL:ENST00000338205.9:c.5318C>T
HGVS.p name
  • ENSP00000259335:p.Thr1951Ile
  • ENSP00000339889:p.Thr1773Ile
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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