Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs1597797238
- Species
- Homo sapiens
- Symbol
- rs1597797238
- Category
- Variant
- Variant type
- SNP
- Overlaps
- BRCA1
- Location
- 17:43045801
- Nucleotide Change
- T>G
- Most Severe Consequence
- See all consequences
- missense variant&splice region variant
- HGVS.g name
- (GRCh38)17:43045801T>G
- HGVS.c name
- ENSEMBL:ENST00000352993.7:c.2043A>C
- ENSEMBL:ENST00000461221.5:n.5570A>C
- HGVS.p name
- ENSP00000312236:p.Ala681=
- ENSP00000417148:p.Asn695His
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr17:43044295...43170327 (126.03 kb)
- Assembly version
- Not Available
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