Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5234652T= , CM000673.2:g.5234652T= | GRCh38 |
| NC_000011.9:g.5255882T= , CM000673.1:g.5255882T= | GRCh37 |
| NC_000011.8:g.5212458T= | NCBI36 |
| NG_000007.3:g.62964A= | |
| NG_063112.2:g.14006A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.-28-191A= | ENSP00000494708.1:n.-28-191A= | |
| ENST00000429817.1:c.-97-122A= | ENSP00000393810.1:n.-97-122A= |