Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13981730T= , CM000674.2:g.13981730T= | GRCh38 |
| NC_000012.11:g.14134664T= , CM000674.1:g.14134664T= | GRCh37 |
| NC_000012.10:g.14025931T= | NCBI36 |
| NG_031854.1:g.3359A= | |
| NG_031854.2:g.5283A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000630791.2:c.-682-154A= | ENSP00000486677.2:n.-682-154A= | |
| ENST00000627535.2:c.-448+186A= | ENSP00000486411.1:n.-448+186A= | |
| ENST00000630791.1:c.-682-154A= | ENSP00000486677.1:n.-682-154A= | |
| XM_011520629.1:c.-682-154A= | XP_011518931.1:n.-682-154A= | |
| XM_011520628.2:c.-836A= | XP_011518930.1:n.-836A= | |
| XM_011520629.2:c.-682-154A= | XP_011518931.1:n.-682-154A= |