Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107920035C= , CM000669.2:g.107920035C= | GRCh38 |
| NC_000007.13:g.107560480C= , CM000669.1:g.107560480C= | GRCh37 |
| NC_000007.12:g.107347716C= | NCBI36 |
| NG_008045.1:g.33895C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.*776C= MANE Select | ENSP00000205402.3:n.*776C= | |
| ENST00000205402.9:c.*776C= | ENSP00000205402.3:n.*776C= | |
| ENST00000417551.5:c.*124+652C= | ENSP00000390667.1:n.*124+652C= | |
| NM_000108.4:c.*776C= | NP_000099.2:n.*776C= | |
| NM_001289750.1:c.*776C= | NP_001276679.1:n.*776C= | |
| NM_001289751.1:c.*776C= | NP_001276680.1:n.*776C= | |
| NM_001289752.1:c.*776C= | NP_001276681.1:n.*776C= | |
| NM_000108.5:c.*776C= MANE Select | NP_000099.2:n.*776C= |