Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.10448075C= , CM000664.2:g.10448075C= | GRCh38 |
| NC_000002.11:g.10588201C= , CM000664.1:g.10588201C= | GRCh37 |
| NC_000002.10:g.10505652C= | NCBI36 |
| NG_012105.1:g.5253G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446285.6:c.-128+46G= | ENSP00000514632.1:n.-128+46G= | |
| ENST00000699836.1:c.-18+46G= | ENSP00000514634.1:n.-18+46G= | |
| ENST00000234111.9:c.-128+46G= MANE Select | ENSP00000234111.4:n.-128+46G= | |
| ENST00000234111.8:c.-128+46G= | ENSP00000234111.4:n.-128+46G= | |
| ENST00000446285.5:n.189+46G= | ||
| NM_001287188.1:c.-415+46G= | NP_001274117.1:n.-415+46G= | |
| NM_002539.2:c.-128+46G= | NP_002530.1:n.-128+46G= | |
| NM_002539.3:c.-128+46G= MANE Select | NP_002530.1:n.-128+46G= | |
| NM_001287188.2:c.-415+46G= | NP_001274117.1:n.-415+46G= |