Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs749742654
- Species
- Homo sapiens
- Symbol
- rs749742654
- Category
- Variant
- Variant type
- SNP
- Overlaps
- HPSE2
- Location
- 10:98693916
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)10:98693916C>T
- HGVS.c name
- ENSEMBL:ENST00000370546.5:c.988G>A
- ENSEMBL:ENST00000370549.5:c.814G>A
- HGVS.p name
- ENSP00000359577:p.Ala330Thr
- ENSP00000359580:p.Ala272Thr
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr10:98457077...99315951 (858.87 kb)
- Assembly version
- Not Available
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