Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173598T>G , CM000678.2:g.173598T>G | GRCh38 |
| NC_000016.9:g.223597T>G , CM000678.1:g.223597T>G | GRCh37 |
| NC_000016.8:g.163597T>G | NCBI36 |
| NG_000006.1:g.34461T>G | |
| NG_059186.1:g.1948T>G | |
| NG_059271.1:g.5752T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.427T>G MANE Select | NP_000508.1:p.Ter143Glu |
| ENST00000251595.11:c.427T>G MANE Select | ENSP00000251595.6:p.Ter143Glu |
| NM_000517.4:c.427T>G | NP_000508.1:p.Ter143Glu |
| ENST00000251595.10:c.427T>G | ENSP00000251595.6:p.Ter143Glu |
| ENST00000397806.1:c.331T>G | ENSP00000380908.1:p.Ter111Glu |
| ENST00000482565.1:n.563T>G |