Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs2136811371
- Species
- Homo sapiens
- Symbol
- rs2136811371
- Category
- Variant
- Variant type
- SNP
- Overlaps
- AAAS
- Location
- 12:53315093
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- splice donor variant
- HGVS.g name
- (GRCh38)12:53315093C>T
- HGVS.c name
- ENSEMBL:ENST00000209873.9:c.446+1G>A
- ENSEMBL:ENST00000394384.7:c.446+1G>A
- HGVS.p name
- Not Available
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr12:53307456...53324864 (17.41 kb)
- Assembly version
- Not Available
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