Version: 8.1.0Date: Fri Apr 18 2025
Allele/Variant
rs201468947
- Species
- Homo sapiens
- Symbol
- rs201468947
- Category
- Variant
- Variant type
- SNP
- Overlaps
- EXOSC5
- Location
- 19:41387596
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)19:41387596C>T
- HGVS.c name
- ENSEMBL:ENST00000221233.9:c.533G>A
- ENSEMBL:ENST00000593771.2:c.599G>A
- HGVS.p name
- ENSP00000221233:p.Arg178Gln
- ENSP00000471002:p.Arg140Gln
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr19:41386371...41397362 (10.99 kb)
- Assembly version
- Not Available
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