Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.104379338G= , CM000670.2:g.104379338G= | GRCh38 |
| NC_000008.10:g.105391566G= , CM000670.1:g.105391566G= | GRCh37 |
| NC_000008.9:g.105460742G= | NCBI36 |
| NG_008840.1:g.92712C= | |
| NG_008840.2:g.92712C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521601.1:n.328+1846C= |