Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs1057521973
- Species
- Homo sapiens
- Symbol
- rs1057521973
- Category
- Variant
- Variant type
- SNP
- Overlaps
- AAAS
- Location
- 12:53309014
- Nucleotide Change
- C>G
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000012.12:g.53309014C>G
- HGVS.c name
- ENSEMBL:ENST00000209873.9:c.942G>C
- ENSEMBL:ENST00000394384.7:c.843G>C
- HGVS.p name
- ENSP00000209873:p.Trp314Cys
- ENSP00000377908:p.Trp281Cys
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr12:53307456...53324864 (17.41 kb)
- Assembly version
- Not Available
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