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