Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.111079610C= , CM000672.2:g.111079610C= | GRCh38 |
| NC_000010.10:g.112839368C= , CM000672.1:g.112839368C= | GRCh37 |
| NC_000010.9:g.112829358C= | NCBI36 |
| NG_012020.1:g.7579C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000681.4:c.*216C= MANE Select | NP_000672.3:n.*216C= |
| ENST00000280155.4:c.*216C= MANE Select | ENSP00000280155.2:n.*216C= |
| NM_000681.3:c.*216C= | NP_000672.3:n.*216C= |
| ENST00000280155.3:c.*216C= | ENSP00000280155.2:n.*216C= |