Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22721103C= , CM000669.2:g.22721103C= | GRCh38 |
| NC_000007.13:g.22760722C= , CM000669.1:g.22760722C= | GRCh37 |
| NC_000007.12:g.22727247C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650428.1:n.46+6465G= |