Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251850T= , CM000681.2:g.2251850T= | GRCh38 |
| NC_000019.9:g.2251849T= , CM000681.1:g.2251849T= | GRCh37 |
| NC_000019.8:g.2202849T= | NCBI36 |
| NG_012190.1:g.7737T= | |
| NG_032853.1:g.9574A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1576T= MANE Select | ENSP00000221496.2:p.Cys526= | |
| ENST00000221496.4:c.1576T= | ENSP00000221496.2:p.Cys526= | |
| NM_000479.3:c.1576T= | NP_000470.2:p.Cys526= | |
| NM_000479.4:c.1576T= | NP_000470.2:p.Cys526= | |
| NM_000479.5:c.1576T= MANE Select | NP_000470.3:p.Cys526= |