Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7455784C>G , CM000679.2:g.7455784C>G | GRCh38 |
| NC_000017.10:g.7359103C>G , CM000679.1:g.7359103C>G | GRCh37 |
| NC_000017.9:g.7299827C>G | NCBI36 |
| NG_008026.1:g.15698C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1218-10C>G MANE Select | ENSP00000304290.2:n.1218-10C>G | |
| ENST00000306071.6:c.1218-10C>G | ENSP00000304290.2:n.1218-10C>G | |
| ENST00000536404.6:c.1002-10C>G | ENSP00000439209.2:n.1002-10C>G | |
| ENST00000570557.5:c.881-10C>G | ||
| ENST00000575379.1:c.-185C>G | ENSP00000461751.1:n.-185C>G | |
| ENST00000576360.1:c.855-10C>G | ENSP00000459092.1:n.855-10C>G | |
| NM_000747.2:c.1218-10C>G | NP_000738.2:n.1218-10C>G | |
| NM_000747.3:c.1218-10C>G MANE Select | NP_000738.2:n.1218-10C>G |