Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981560T= , CM000674.2:g.48981560T= | GRCh38 |
| NC_000012.11:g.49375343T= , CM000674.1:g.49375343T= | GRCh37 |
| NC_000012.10:g.47661610T= | NCBI36 |
| NG_033141.1:g.8108T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.1033T= MANE Select | ENSP00000293549.3:p.Cys345= | |
| ENST00000293549.3:c.1033T= | ENSP00000293549.3:p.Cys345= | |
| ENST00000613114.4:c.1000T= | ENSP00000481240.1:p.Cys334= | |
| NM_005430.3:c.1033T= | NP_005421.1:p.Cys345= | |
| NM_005430.4:c.1033T= MANE Select | NP_005421.1:p.Cys345= |