Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34762618C= , CM000668.2:g.34762618C= | GRCh38 |
| NC_000006.11:g.34730395C= , CM000668.1:g.34730395C= | GRCh37 |
| NC_000006.10:g.34838373C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003093.3:c.75C= MANE Select | NP_003084.1:p.Cys25= |
| ENST00000244520.10:c.75C= MANE Select | ENSP00000244520.5:p.Cys25= |
| NM_003093.2:c.75C= | NP_003084.1:p.Cys25= |
| NR_029472.1:n.482C= | |
| NR_029472.2:n.71C= | |
| ENST00000244520.9:c.75C= | ENSP00000244520.5:p.Cys25= |
| ENST00000374017.3:c.138C= | ENSP00000363129.3:p.Cys46= |
| ENST00000374018.5:c.-49C= | ENSP00000363130.1:n.-49C= |
| ENST00000474635.1:n.67C= |