Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27098564C= , CM000669.2:g.27098564C= | GRCh38 |
| NC_000007.13:g.27138183C= , CM000669.1:g.27138183C= | GRCh37 |
| NC_000007.12:g.27104708C= | NCBI36 |
| NG_011813.1:g.2443G= | |
| NG_012078.1:g.9212G= | |
| NG_033087.1:g.7471C= | |
| NG_012078.2:g.9212G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_038366.1:n.296-534C= | |
| NR_038367.1:n.296-1215C= |