Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478721G= , CM000670.2:g.81478721G= | GRCh38 |
| NC_000008.10:g.82390956G= , CM000670.1:g.82390956G= | GRCh37 |
| NC_000008.9:g.82553511G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256104.5:c.*144C= MANE Select | ENSP00000256104.4:n.*144C= | |
| ENST00000256104.4:c.*144C= | ENSP00000256104.4:n.*144C= | |
| ENST00000518669.5:n.478C= | ||
| ENST00000521734.1:n.752C= | ||
| ENST00000522659.1:c.*419C= | ENSP00000428385.1:n.*419C= | |
| NM_001442.2:c.*144C= | NP_001433.1:n.*144C= | |
| XR_001745980.1:n.514+16747G= | ||
| NM_001442.3:c.*144C= MANE Select | NP_001433.1:n.*144C= |