Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478749G= , CM000670.2:g.81478749G= | GRCh38 |
| NC_000008.10:g.82390984G= , CM000670.1:g.82390984G= | GRCh37 |
| NC_000008.9:g.82553539G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256104.5:c.*116C= MANE Select | ENSP00000256104.4:n.*116C= | |
| ENST00000256104.4:c.*116C= | ENSP00000256104.4:n.*116C= | |
| ENST00000518669.5:n.450C= | ||
| ENST00000521734.1:n.724C= | ||
| ENST00000522659.1:c.*391C= | ENSP00000428385.1:n.*391C= | |
| NM_001442.2:c.*116C= | NP_001433.1:n.*116C= | |
| XR_001745980.1:n.514+16775G= | ||
| NM_001442.3:c.*116C= MANE Select | NP_001433.1:n.*116C= |