Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5234497C>A , CM000673.2:g.5234497C>A | GRCh38 |
| NC_000011.9:g.5255727C>A , CM000673.1:g.5255727C>A | GRCh37 |
| NC_000011.8:g.5212303C>A | NCBI36 |
| NG_000007.3:g.63119G>T | |
| NG_063112.2:g.14161G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.-28-36G>T | ENSP00000494708.1:n.-28-36G>T | |
| ENST00000380299.3:c.-64G>T | ENSP00000369654.3:n.-64G>T | |
| ENST00000429817.1:c.-64G>T | ENSP00000393810.1:n.-64G>T | |
| NM_000519.3:c.-64G>T | NP_000510.1:n.-64G>T |