Allele/Variant

rs370592348

Species
Homo sapiens
Symbol
rs370592348
Category
Variant
Variant type
SNP
Overlaps
CFP
Location
X:47629551
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)X:47629551C>T
HGVS.c name
  • ENSEMBL:ENST00000247153.7:c.200G>A
  • ENSEMBL:ENST00000377005.6:c.200G>A
HGVS.p name
  • ENSP00000247153:p.Arg67His
  • ENSP00000366204:p.Arg67His
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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