Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173612G= , CM000678.2:g.173612G= | GRCh38 |
| NC_000016.9:g.223611G= , CM000678.1:g.223611G= | GRCh37 |
| NC_000016.8:g.163611G= | NCBI36 |
| NG_000006.1:g.34475G= | |
| NG_059186.1:g.1962G= | |
| NG_059271.1:g.5766G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.*12G= MANE Select | ENSP00000251595.6:n.*12G= | |
| ENST00000251595.10:c.*12G= | ENSP00000251595.6:n.*12G= | |
| ENST00000397806.1:c.*12G= | ENSP00000380908.1:n.*12G= | |
| ENST00000482565.1:n.577G= | ||
| NM_000517.4:c.*12G= | NP_000508.1:n.*12G= | |
| NM_000517.6:c.*12G= MANE Select | NP_000508.1:n.*12G= |