Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.82819089C= , CM000669.2:g.82819089C= | GRCh38 |
| NC_000007.13:g.82448405C= , CM000669.1:g.82448405C= | GRCh37 |
| NC_000007.12:g.82286341C= | NCBI36 |
| NG_047145.1:g.348793G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333891.14:c.14791+3406G= MANE Select | ENSP00000334319.8:n.14791+3406G= | |
| ENST00000333891.13:c.14791+3406G= | ENSP00000334319.8:n.14791+3406G= | |
| ENST00000432078.2:n.279+2023G= | ||
| NM_033026.5:c.14791+3406G= | NP_149015.2:n.14791+3406G= | |
| XM_017012006.2:c.7879+2023G= | XP_016867495.1:n.7879+2023G= | |
| XR_001744643.2:n.17743+2023G= | ||
| NM_033026.6:c.14791+3406G= MANE Select | NP_149015.2:n.14791+3406G= |