Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269077T= , CM000668.2:g.31269077T= | GRCh38 |
| NC_000006.11:g.31236854T= , CM000668.1:g.31236854T= | GRCh37 |
| NC_000006.10:g.31344833T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002117.6:c.*92A= MANE Select | NP_002108.4:n.*92A= |
| ENST00000376228.10:c.*92A= MANE Select | ENSP00000365402.5:n.*92A= |
| NM_002117.5:c.*92A= | NP_002108.4:n.*92A= |
| ENST00000376228.9:c.*92A= | ENSP00000365402.5:n.*92A= |
| ENST00000376237.8:c.*780A= | ENSP00000365412.4:n.*780A= |
| ENST00000383329.7:c.*92A= | ENSP00000372819.3:n.*92A= |
| ENST00000466892.5:n.426A= | |
| ENST00000470363.5:n.951A= | |
| ENST00000487245.5:n.1552A= |