Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269221C= , CM000668.2:g.31269221C= | GRCh38 |
| NC_000006.11:g.31236998C= , CM000668.1:g.31236998C= | GRCh37 |
| NC_000006.10:g.31344977C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002117.6:c.1097-48G= MANE Select | NP_002108.4:n.1097-48G= |
| ENST00000376228.10:c.1097-48G= MANE Select | ENSP00000365402.5:n.1097-48G= |
| NM_002117.5:c.1097-48G= | NP_002108.4:n.1097-48G= |
| ENST00000376228.9:c.1097-48G= | ENSP00000365402.5:n.1097-48G= |
| ENST00000376237.8:c.*684-48G= | ENSP00000365412.4:n.*684-48G= |
| ENST00000383329.7:c.1115-48G= | ENSP00000372819.3:n.1115-48G= |
| ENST00000466892.5:n.330-48G= | |
| ENST00000470363.5:n.855-48G= | |
| ENST00000487245.5:n.1456-48G= |