Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50489911G= , CM000684.2:g.50489911G= | GRCh38 |
| NC_000022.10:g.50928340G= , CM000684.1:g.50928340G= | GRCh37 |
| NC_000022.9:g.49275206G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017584.6:c.*55G= MANE Select | NP_060054.4:n.*55G= |
| ENST00000216075.11:c.*55G= MANE Select | ENSP00000216075.6:n.*55G= |
| NM_017584.5:c.*55G= | NP_060054.4:n.*55G= |
| ENST00000216075.10:c.*55G= | ENSP00000216075.6:n.*55G= |
| ENST00000395732.7:c.*86G= | ENSP00000379081.3:n.*86G= |
| ENST00000395733.7:c.*86G= | ENSP00000379082.3:n.*86G= |
| ENST00000451761.1:c.853G= | ENSP00000409894.1:n.853G= |
| XM_005261925.3:c.*55G= | XP_005261982.1:n.*55G= |
| XM_005261925.4:c.*55G= | XP_005261982.1:n.*55G= |
| XR_244455.2:n.3409G= |