Allele/Variant

rs748024269

Species
Homo sapiens
Symbol
rs748024269
Category
Variant
Variant type
SNP
Overlaps
INHA
Location
2:219574808
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000002.12:g.219574808C>T
HGVS.c name
  • ENSEMBL:ENST00000243786.3:c.383C>T
  • ENSEMBL:ENST00000489456.1:n.400C>T
HGVS.p name
  • ENSP00000243786:p.Ser128Leu
  • NP_002182:p.Ser128Leu
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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