Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185143289C= , CM000666.2:g.185143289C= | GRCh38 |
| NC_000004.11:g.186064443C= , CM000666.1:g.186064443C= | GRCh37 |
| NC_000004.10:g.186301437C= | NCBI36 |
| NG_013001.1:g.5027C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.-84C= MANE Select | ENSP00000281456.5:n.-84C= | |
| ENST00000281456.10:c.-84C= | ENSP00000281456.5:n.-84C= | |
| ENST00000491736.1:c.-84C= | ENSP00000476711.1:n.-84C= | |
| NM_001151.3:c.-84C= | NP_001142.2:n.-84C= | |
| NM_001151.4:c.-84C= MANE Select | NP_001142.2:n.-84C= |