Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129468266A= , CM000672.2:g.129468266A= | GRCh38 |
| NC_000010.10:g.131266530A= , CM000672.1:g.131266530A= | GRCh37 |
| NC_000010.9:g.131156520A= | NCBI36 |
| NG_052673.1:g.6083A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306010.8:c.81+970A= | ENSP00000302111.7:n.81+970A= | |
| ENST00000651593.1:c.-13+970A= MANE Select | ENSP00000498729.1:n.-13+970A= | |
| ENST00000306010.7:c.81+970A= | ENSP00000302111.7:n.81+970A= | |
| ENST00000482547.1:n.35+970A= | ||
| ENST00000482653.1:n.68+970A= | ||
| NM_002412.3:c.81+970A= | NP_002403.2:n.81+970A= | |
| NM_002412.4:c.81+970A= | NP_002403.2:n.81+970A= | |
| XM_005252682.2:c.-13+825A= | XP_005252739.1:n.-13+825A= | |
| NM_002412.5:c.-13+970A= MANE Select | NP_002403.3:n.-13+970A= |