Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173569T= , CM000678.2:g.173569T= | GRCh38 |
| NC_000016.9:g.223568T= , CM000678.1:g.223568T= | GRCh37 |
| NC_000016.8:g.163568T= | NCBI36 |
| NG_000006.1:g.34432T= | |
| NG_059186.1:g.1919T= | |
| NG_059271.1:g.5723T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.398T= MANE Select | NP_000508.1:p.Val133= |
| ENST00000251595.11:c.398T= MANE Select | ENSP00000251595.6:p.Val133= |
| NM_000517.4:c.398T= | NP_000508.1:p.Val133= |
| ENST00000251595.10:c.398T= | ENSP00000251595.6:p.Val133= |
| ENST00000397806.1:c.302T= | ENSP00000380908.1:p.Val101= |
| ENST00000482565.1:n.534T= |