Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4734600C= , CM000679.2:g.4734600C= | GRCh38 |
| NC_000017.10:g.4637895C= , CM000679.1:g.4637895C= | GRCh37 |
| NC_000017.9:g.4584644C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293778.12:c.*6G= MANE Select | ENSP00000293778.7:n.*6G= | |
| ENST00000574412.6:c.*6G= | ENSP00000459592.2:n.*6G= | |
| ENST00000293778.10:c.*6G= | ENSP00000293778.6:n.*6G= | |
| ENST00000574412.5:c.*6G= | ENSP00000459592.1:n.*6G= | |
| ENST00000575168.1:n.602G= | ||
| ENST00000576153.5:n.562G= | ||
| NM_001100812.1:c.*6G= | NP_001094282.1:n.*6G= | |
| NM_022059.3:c.*6G= | NP_071342.2:n.*6G= | |
| NM_022059.4:c.*6G= | NP_071342.2:n.*6G= | |
| NM_001100812.2:c.*6G= | NP_001094282.2:n.*6G= | |
| NM_001386809.1:c.*6G= MANE Select | NP_001373738.1:n.*6G= |