Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5234559T>C , CM000673.2:g.5234559T>C | GRCh38 |
| NC_000011.9:g.5255789T>C , CM000673.1:g.5255789T>C | GRCh37 |
| NC_000011.8:g.5212365T>C | NCBI36 |
| NG_000007.3:g.63057A>G | |
| NG_063112.2:g.14099A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000519.3:c.-126A>G | NP_000510.1:n.-126A>G |
| ENST00000380299.3:c.-126A>G | ENSP00000369654.3:n.-126A>G |
| ENST00000429817.1:c.-97-29A>G | ENSP00000393810.1:n.-97-29A>G |
| ENST00000643122.1:c.-28-98A>G | ENSP00000494708.1:n.-28-98A>G |