Canonical Allele Identifier:
CA565407117
Gene:
Linked Data
dbSNP Id:
rs1306159219
gnomAD v2:
6-8228856-A-T
gnomAD v3:
6-8228623-A-T
gnomAD v4:
6-8228623-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.8228623A>T , CM000668.2:g.8228623A>T | GRCh38 |
| NC_000006.11:g.8228856A>T , CM000668.1:g.8228856A>T | GRCh37 |
| NC_000006.10:g.8173855A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_926440.1:n.83-1491A>T | ||
| XR_926441.1:n.190-10308A>T | ||
| XR_926442.1:n.83-1491A>T | ||
| XR_926443.1:n.83-10308A>T | ||
| XR_001743950.1:n.180-10308A>T | ||
| XR_926440.2:n.75-1491A>T | ||
| XR_926441.2:n.180-10308A>T | ||
| XR_926443.2:n.84-10308A>T |