Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.101271199T>C , CM000677.2:g.101271199T>C | GRCh38 |
| NC_000015.9:g.101811404T>C , CM000677.1:g.101811404T>C | GRCh37 |
| NC_000015.8:g.99628927T>C | NCBI36 |
| NG_013322.1:g.11297A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398226.7:c.*454A>G | ENSP00000381282.3:n.*454A>G | |
| NM_203472.2:c.*460A>G | NP_982298.2:n.*460A>G | |
| NM_203472.3:c.*460A>G | NP_982298.2:n.*460A>G |