Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7447656T= , CM000679.2:g.7447656T= | GRCh38 |
| NC_000017.10:g.7350975T= , CM000679.1:g.7350975T= | GRCh37 |
| NC_000017.9:g.7291699T= | NCBI36 |
| NG_008026.1:g.7570T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000747.3:c.610+6T= MANE Select | NP_000738.2:n.610+6T= |
| ENST00000306071.7:c.610+6T= MANE Select | ENSP00000304290.2:n.610+6T= |
| NM_000747.2:c.610+6T= | NP_000738.2:n.610+6T= |
| ENST00000306071.6:c.610+6T= | ENSP00000304290.2:n.610+6T= |
| ENST00000536404.6:c.394+6T= | ENSP00000439209.2:n.394+6T= |
| ENST00000570557.5:c.483+6T= | |
| ENST00000573209.1:n.1554+6T= | |
| ENST00000576360.1:c.394+6T= | ENSP00000459092.1:n.394+6T= |