Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65964567C= , CM000674.2:g.65964567C= | GRCh38 |
| NC_000012.11:g.66358347C= , CM000674.1:g.66358347C= | GRCh37 |
| NC_000012.10:g.64644614C= | NCBI36 |
| NG_016296.1:g.145108C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003483.6:c.*1275C= MANE Select | NP_003474.1:n.*1275C= |
| ENST00000403681.7:c.*1275C= MANE Select | ENSP00000384026.2:n.*1275C= |
| NM_003483.4:c.*1275C= | NP_003474.1:n.*1275C= |
| ENST00000403681.6:c.*1275C= | ENSP00000384026.2:n.*1275C= |