Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5234513A= , CM000673.2:g.5234513A= | GRCh38 |
| NC_000011.9:g.5255743A= , CM000673.1:g.5255743A= | GRCh37 |
| NC_000011.8:g.5212319A= | NCBI36 |
| NG_000007.3:g.63103T= | |
| NG_063112.2:g.14145T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000519.3:c.-80T= | NP_000510.1:n.-80T= |
| ENST00000380299.3:c.-80T= | ENSP00000369654.3:n.-80T= |
| ENST00000429817.1:c.-80T= | ENSP00000393810.1:n.-80T= |
| ENST00000643122.1:c.-28-52T= | ENSP00000494708.1:n.-28-52T= |