Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs754997253
- Species
- Homo sapiens
- Symbol
- rs754997253
- Category
- Variant
- Variant type
- SNP
- Overlaps
- AP2S1
- Location
- 19:46839550
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)19:46839550C>T
- HGVS.c name
- ENSEMBL:ENST00000263270.11:c.182G>A
- ENSEMBL:ENST00000352203.8:c.224G>A
- HGVS.p name
- ENSP00000263270:p.Arg61His
- ENSP00000263271:p.Arg75His
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr19:46838136...46850846 (12.71 kb)
- Assembly version
- Not Available
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