Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs548006217
- Species
- Homo sapiens
- Symbol
- rs548006217
- Category
- Variant
- Variant type
- SNP
- Overlaps
- DHX34
- Location
- 19:47372846
- Nucleotide Change
- G>A
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000019.10:g.47372846G>A
- HGVS.c name
- ENSEMBL:ENST00000328771.9:c.1885G>A
- ENSEMBL:ENST00000460681.1:n.50G>A
- HGVS.p name
- ENSP00000331907:p.Ala629Thr
- ENSP00000520696:p.Ala629Thr
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr19:47349312...47383247 (33.94 kb)
- Assembly version
- Not Available
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