Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120738743C= , CM000674.2:g.120738743C= | GRCh38 |
| NC_000012.11:g.121176546C= , CM000674.1:g.121176546C= | GRCh37 |
| NC_000012.10:g.119660929C= | NCBI36 |
| NG_007991.1:g.17976C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.933+73C= MANE Select | ENSP00000242592.4:n.933+73C= | |
| ENST00000242592.8:c.933+73C= | ENSP00000242592.4:n.933+73C= | |
| ENST00000411593.2:c.921+73C= | ENSP00000401045.2:n.921+73C= | |
| NM_000017.3:c.933+73C= | NP_000008.1:n.933+73C= | |
| NM_001302554.1:c.921+73C= | NP_001289483.1:n.921+73C= | |
| NM_000017.4:c.933+73C= MANE Select | NP_000008.1:n.933+73C= | |
| NM_001302554.2:c.921+73C= | NP_001289483.1:n.921+73C= |