Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40843869A= , CM000681.2:g.40843869A= | GRCh38 |
| NC_000019.9:g.41349774A= , CM000681.1:g.41349774A= | GRCh37 |
| NC_000019.8:g.46041614A= | NCBI36 |
| NG_008377.1:g.11579T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000762.6:c.1412T= MANE Select | NP_000753.3:p.Ile471= |
| ENST00000301141.10:c.1412T= MANE Select | ENSP00000301141.4:p.Ile471= |
| NM_000762.5:c.1412T= | NP_000753.3:p.Ile471= |
| ENST00000301141.9:c.1412T= | ENSP00000301141.4:p.Ile471= |
| ENST00000599960.1:n.331T= | |
| ENST00000601627.1:c.119+42454A= | |
| ENST00000610301.1:c.1412T= | ENSP00000477899.1:p.Ile471= |