Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs542469768
- Species
- Homo sapiens
- Symbol
- rs542469768
- Category
- Variant
- Variant type
- SNP
- Overlaps
- AKNA
- Location
- 9:114337238
- Nucleotide Change
- G>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000009.12:g.114337238G>T
- HGVS.c name
- ENSEMBL:ENST00000223791.7:c.2516C>A
- ENSEMBL:ENST00000307564.8:c.4136C>A
- HGVS.p name
- ENSP00000223791:p.Pro839Gln
- ENSP00000303769:p.Pro1379Gln
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr9:114330504...114398472 (67.97 kb)
- Assembly version
- Not Available
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