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