Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173444G= , CM000678.2:g.173444G= | GRCh38 |
| NC_000016.9:g.223443G= , CM000678.1:g.223443G= | GRCh37 |
| NC_000016.8:g.163443G= | NCBI36 |
| NG_000006.1:g.34307G= | |
| NG_059186.1:g.1794G= | |
| NG_059271.1:g.5598G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.301-28G= MANE Select | ENSP00000251595.6:n.301-28G= | |
| ENST00000251595.10:c.301-28G= | ENSP00000251595.6:n.301-28G= | |
| ENST00000397806.1:c.205-28G= | ENSP00000380908.1:n.205-28G= | |
| ENST00000482565.1:n.437-28G= | ||
| ENST00000484216.1:n.384G= | ||
| NM_000517.4:c.301-28G= | NP_000508.1:n.301-28G= | |
| NM_000517.6:c.301-28G= MANE Select | NP_000508.1:n.301-28G= |