Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989171C= , CM000672.2:g.94989171C= | GRCh38 |
| NC_000010.10:g.96748928C= , CM000672.1:g.96748928C= | GRCh37 |
| NC_000010.9:g.96738918C= | NCBI36 |
| NG_008385.1:g.55514C= | |
| NG_008385.2:g.56014C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.*143C= MANE Select | ENSP00000260682.6:n.*143C= | |
| ENST00000643112.1:c.*625C= | ENSP00000496202.1:n.*625C= | |
| ENST00000260682.6:c.*143C= | ENSP00000260682.6:n.*143C= | |
| NM_000771.3:c.*143C= | NP_000762.2:n.*143C= | |
| NM_000771.4:c.*143C= MANE Select | NP_000762.2:n.*143C= |