Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45987501C= , CM000683.2:g.45987501C= | GRCh38 |
| NC_000021.8:g.47407415C= , CM000683.1:g.47407415C= | GRCh37 |
| NC_000021.7:g.46231843C= | NCBI36 |
| NG_008674.1:g.10753C= , LRG_475:g.10753C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.741C= MANE Select | NP_001839.2:p.Cys247= |
| ENST00000361866.8:c.741C= MANE Select | ENSP00000355180.3:p.Cys247= |
| NM_001848.2:c.741C= , LRG_475t1:c.741C= | NP_001839.2:p.Cys247= |
| ENST00000361866.7:c.741C= | ENSP00000355180.3:p.Cys247= |
| ENST00000492851.1:n.393C= | |
| ENST00000612273.1:c.741C= | ENSP00000483630.1:p.Cys247= |