Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151054503C= , CM000669.2:g.151054503C= | GRCh38 |
| NC_000007.13:g.150751590C= , CM000669.1:g.150751590C= | GRCh37 |
| NC_000007.12:g.150382523C= | NCBI36 |
| NG_042167.1:g.8463G= | |
| NG_051947.1:g.1304C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485972.6:c.651-38G= MANE Select | ENSP00000419782.1:n.651-38G= | |
| ENST00000297518.4:c.555-38G= | ENSP00000297518.4:n.555-38G= | |
| ENST00000485972.5:c.651-38G= | ENSP00000419782.1:n.651-38G= | |
| NM_001164410.2:c.555-38G= | NP_001157882.1:n.555-38G= | |
| NM_004935.3:c.651-38G= | NP_004926.1:n.651-38G= | |
| NM_004935.4:c.651-38G= MANE Select | NP_004926.1:n.651-38G= | |
| NM_001164410.3:c.555-38G= | NP_001157882.1:n.555-38G= |