Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269063C= , CM000668.2:g.31269063C= | GRCh38 |
| NC_000006.11:g.31236840C= , CM000668.1:g.31236840C= | GRCh37 |
| NC_000006.10:g.31344819C= | NCBI36 |
| NG_029422.2:g.8069G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.*106G= MANE Select | ENSP00000365402.5:n.*106G= | |
| ENST00000376228.9:c.*106G= | ENSP00000365402.5:n.*106G= | |
| ENST00000376237.8:c.*794G= | ENSP00000365412.4:n.*794G= | |
| ENST00000383329.7:c.*106G= | ENSP00000372819.3:n.*106G= | |
| ENST00000466892.5:n.440G= | ||
| ENST00000470363.5:n.965G= | ||
| ENST00000487245.5:n.1566G= | ||
| NM_002117.5:c.*106G= | NP_002108.4:n.*106G= | |
| NM_002117.6:c.*106G= MANE Select | NP_002108.4:n.*106G= |