Allele/Variant

rs375613734

Species
Homo sapiens
Symbol
rs375613734
Category
Variant
Variant type
SNP
Overlaps
RO60
Location
1:193069211
Nucleotide Change
T>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000001.11:g.193069211T>A
HGVS.c name
  • ENSEMBL:ENST00000367441.1:c.157T>A
  • ENSEMBL:ENST00000367446.7:c.157T>A
HGVS.p name
  • ENSP00000356411:p.Leu53Met
  • ENSP00000356416:p.Leu53Met
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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