Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612143A= , CM000679.2:g.41612143A= | GRCh38 |
| NC_000017.10:g.39768395A= , CM000679.1:g.39768395A= | GRCh37 |
| NC_000017.9:g.37021921A= | NCBI36 |
| NG_008301.1:g.5685T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.531+15T= MANE Select | ENSP00000301653.3:n.531+15T= | |
| ENST00000301653.8:c.531+15T= | ENSP00000301653.3:n.531+15T= | |
| ENST00000588319.1:n.623T= | ||
| ENST00000593067.1:c.-184+15T= | ENSP00000467124.1:n.-184+15T= | |
| NM_005557.3:c.531+15T= | NP_005548.2:n.531+15T= | |
| NM_005557.4:c.531+15T= MANE Select | NP_005548.2:n.531+15T= |