Canonical Allele Identifier:
CA2581249473
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9249490G>C , CM000678.2:g.9249490G>C | GRCh38 |
| NC_000016.9:g.9343347G>C , CM000678.1:g.9343347G>C | GRCh37 |
| NC_000016.8:g.9250848G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_933054.1:n.70+64757G>C |