Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs369214447
- Species
- Homo sapiens
- Symbol
- rs369214447
- Category
- Variant
- Variant type
- SNP
- Overlaps
- DDX54
- Location
- 12:113172356
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)12:113172356C>T
- HGVS.c name
- ENSEMBL:ENST00000306014.10:c.1276G>A
- ENSEMBL:ENST00000314045.11:c.1276G>A
- HGVS.p name
- ENSP00000304072:p.Val426Met
- ENSP00000323858:p.Val426Met
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr12:113157173...113185479 (28.31 kb)
- Assembly version
- Not Available
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