Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898080G= , CM000679.2:g.4898080G= | GRCh38 |
| NC_000017.10:g.4801375G= , CM000679.1:g.4801375G= | GRCh37 |
| NC_000017.9:g.4742154G= | NCBI36 |
| NG_008029.2:g.9996C= | |
| NG_028005.1:g.69741G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.*656C= MANE Select | ENSP00000497829.1:n.*656C= | |
| ENST00000652550.1:n.1864C= | ||
| ENST00000293780.4:c.*656C= | ENSP00000293780.4:n.*656C= | |
| ENST00000572438.1:n.1824C= | ||
| NM_000080.3:c.*656C= | NP_000071.1:n.*656C= | |
| NM_000080.4:c.*656C= MANE Select | NP_000071.1:n.*656C= | |
| XM_017024115.1:c.*656C= | XP_016879604.1:n.*656C= |