Canonical Allele Identifier:
CA275447088
Community Standard Title: NC_000015.10:g.99817230T>C
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.99817230T>C , CM000677.2:g.99817230T>C | GRCh38 |
| NC_000015.9:g.100357435T>C , CM000677.1:g.100357435T>C | GRCh37 |
| NC_000015.8:g.98174958T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_135737.1:n.346+4144T>C | |
| XR_932717.1:n.408+4144T>C | |
| XR_932718.1:n.408+4144T>C | |
| XR_932719.1:n.514+8928T>C | |
| XR_932720.1:n.409-1708T>C |