Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129467281C= , CM000672.2:g.129467281C= | GRCh38 |
| NC_000010.10:g.131265545C= , CM000672.1:g.131265545C= | GRCh37 |
| NC_000010.9:g.131155535C= | NCBI36 |
| NG_052673.1:g.5098C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002412.5:c.-28C= MANE Select | NP_002403.3:n.-28C= |
| ENST00000651593.1:c.-28C= MANE Select | ENSP00000498729.1:n.-28C= |
| NM_002412.3:c.66C= | NP_002403.2:p.Arg22= |
| NM_002412.4:c.66C= | NP_002403.2:p.Arg22= |
| ENST00000306010.7:c.66C= | ENSP00000302111.7:p.Arg22= |
| ENST00000306010.8:c.66C= | ENSP00000302111.7:p.Arg22= |
| ENST00000482547.1:n.20C= | |
| ENST00000482653.1:n.53C= |