Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173603T= , CM000678.2:g.173603T= | GRCh38 |
| NC_000016.9:g.223602T= , CM000678.1:g.223602T= | GRCh37 |
| NC_000016.8:g.163602T= | NCBI36 |
| NG_000006.1:g.34466T= | |
| NG_059186.1:g.1953T= | |
| NG_059271.1:g.5757T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.*3T= MANE Select | ENSP00000251595.6:n.*3T= | |
| ENST00000251595.10:c.*3T= | ENSP00000251595.6:n.*3T= | |
| ENST00000397806.1:c.*3T= | ENSP00000380908.1:n.*3T= | |
| ENST00000482565.1:n.568T= | ||
| NM_000517.4:c.*3T= | NP_000508.1:n.*3T= | |
| NM_000517.6:c.*3T= MANE Select | NP_000508.1:n.*3T= |