Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65965972C= , CM000674.2:g.65965972C= | GRCh38 |
| NC_000012.11:g.66359752C= , CM000674.1:g.66359752C= | GRCh37 |
| NC_000012.10:g.64646019C= | NCBI36 |
| NG_016296.1:g.146513C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003483.6:c.*2680C= MANE Select | NP_003474.1:n.*2680C= |
| ENST00000403681.7:c.*2680C= MANE Select | ENSP00000384026.2:n.*2680C= |
| NM_003483.4:c.*2680C= | NP_003474.1:n.*2680C= |
| ENST00000403681.6:c.*2680C= | ENSP00000384026.2:n.*2680C= |