Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173494T= , CM000678.2:g.173494T= | GRCh38 |
| NC_000016.9:g.223493T= , CM000678.1:g.223493T= | GRCh37 |
| NC_000016.8:g.163493T= | NCBI36 |
| NG_000006.1:g.34357T= | |
| NG_059186.1:g.1844T= | |
| NG_059271.1:g.5648T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.323T= MANE Select | ENSP00000251595.6:p.Val108= | |
| ENST00000251595.10:c.323T= | ENSP00000251595.6:p.Val108= | |
| ENST00000397806.1:c.227T= | ENSP00000380908.1:p.Val76= | |
| ENST00000482565.1:n.459T= | ||
| NM_000517.4:c.323T= | NP_000508.1:p.Val108= | |
| NM_000517.6:c.323T= MANE Select | NP_000508.1:p.Val108= |