Version: 8.1.0Date: Fri Apr 18 2025
Allele/Variant
rs374949092
- Species
- Homo sapiens
- Symbol
- rs374949092
- Category
- Variant
- Variant type
- SNP
- Overlaps
- ERC1
- Location
- 12:1116006
- Nucleotide Change
- G>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000012.12:g.1116006G>T
- HGVS.c name
- ENSEMBL:ENST00000347735.10:n.1864G>T
- ENSEMBL:ENST00000355446.9:c.1542G>T
- HGVS.p name
- ENSP00000347621:p.Glu514Asp
- ENSP00000354158:p.Glu514Asp
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr12:989959...1495933 (505.97 kb)
- Assembly version
- Not Available
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