Canonical Allele Identifier:
CA12288009
Gene:
Linked Data
dbSNP Id:
rs9406106
gnomAD v2:
6-8170017-C-T
gnomAD v3:
6-8169784-C-T
gnomAD v4:
6-8169784-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.8169784C>T , CM000668.2:g.8169784C>T | GRCh38 |
| NC_000006.11:g.8170017C>T , CM000668.1:g.8170017C>T | GRCh37 |
| NC_000006.10:g.8115016C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_926440.1:n.82+11524C>T | ||
| XR_926441.1:n.189+1864C>T | ||
| XR_926442.1:n.82+11524C>T | ||
| XR_926443.1:n.82+11524C>T | ||
| XR_001743950.1:n.179+1864C>T | ||
| XR_926440.2:n.74+11524C>T | ||
| XR_926441.2:n.179+1864C>T | ||
| XR_926443.2:n.83+11524C>T |