Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.76581082A= , CM000668.2:g.76581082A= | GRCh38 |
| NC_000006.11:g.77290799A= , CM000668.1:g.77290799A= | GRCh37 |
| NC_000006.10:g.77347518A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_942695.1:n.394-2000T= | ||
| XR_942696.1:n.393+5366T= | ||
| NR_149101.1:n.216+5366T= |