Canonical Allele Identifier:
CA565403885
Gene:
Linked Data
dbSNP Id:
rs1390004790
gnomAD v2:
6-8169754-C-T
gnomAD v3:
6-8169521-C-T
gnomAD v4:
6-8169521-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.8169521C>T , CM000668.2:g.8169521C>T | GRCh38 |
| NC_000006.11:g.8169754C>T , CM000668.1:g.8169754C>T | GRCh37 |
| NC_000006.10:g.8114753C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_926440.1:n.82+11261C>T | ||
| XR_926441.1:n.189+1601C>T | ||
| XR_926442.1:n.82+11261C>T | ||
| XR_926443.1:n.82+11261C>T | ||
| XR_001743950.1:n.179+1601C>T | ||
| XR_926440.2:n.74+11261C>T | ||
| XR_926441.2:n.179+1601C>T | ||
| XR_926443.2:n.83+11261C>T |