Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173465T= , CM000678.2:g.173465T= | GRCh38 |
| NC_000016.9:g.223464T= , CM000678.1:g.223464T= | GRCh37 |
| NC_000016.8:g.163464T= | NCBI36 |
| NG_000006.1:g.34328T= | |
| NG_059186.1:g.1815T= | |
| NG_059271.1:g.5619T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.301-7T= MANE Select | ENSP00000251595.6:n.301-7T= | |
| ENST00000251595.10:c.301-7T= | ENSP00000251595.6:n.301-7T= | |
| ENST00000397806.1:c.205-7T= | ENSP00000380908.1:n.205-7T= | |
| ENST00000482565.1:n.437-7T= | ||
| NM_000517.4:c.301-7T= | NP_000508.1:n.301-7T= | |
| NM_000517.6:c.301-7T= MANE Select | NP_000508.1:n.301-7T= |