Canonical Allele Identifier:
CA2199721337
Gene:
Linked Data
dbSNP Id:
rs2059765614
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.99817259G>C , CM000677.2:g.99817259G>C | GRCh38 |
| NC_000015.9:g.100357464G>C , CM000677.1:g.100357464G>C | GRCh37 |
| NC_000015.8:g.98174987G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_932717.1:n.408+4173G>C | ||
| XR_932718.1:n.408+4173G>C | ||
| XR_932719.1:n.514+8957G>C | ||
| XR_932720.1:n.409-1679G>C | ||
| NR_135737.1:n.346+4173G>C |