Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs139506136
- Species
- Homo sapiens
- Symbol
- rs139506136
- Category
- Variant
- Variant type
- SNP
- Overlaps
- CPVL
- Location
- 7:29066049
- Nucleotide Change
- T>G
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)7:29066049T>G
- HGVS.c name
- ENSEMBL:ENST00000265394.10:c.937A>C
- ENSEMBL:ENST00000396276.7:c.937A>C
- HGVS.p name
- ENSP00000265394:p.Asn313His
- ENSP00000379572:p.Asn313His
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr7:28994636...29195451 (200.82 kb)
- Assembly version
- Not Available
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