Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129468314T= , CM000672.2:g.129468314T= | GRCh38 |
| NC_000010.10:g.131266578T= , CM000672.1:g.131266578T= | GRCh37 |
| NC_000010.9:g.131156568T= | NCBI36 |
| NG_052673.1:g.6131T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306010.8:c.81+1018T= | ENSP00000302111.7:n.81+1018T= | |
| ENST00000651593.1:c.-13+1018T= MANE Select | ENSP00000498729.1:n.-13+1018T= | |
| ENST00000306010.7:c.81+1018T= | ENSP00000302111.7:n.81+1018T= | |
| ENST00000482547.1:n.35+1018T= | ||
| ENST00000482653.1:n.68+1018T= | ||
| NM_002412.3:c.81+1018T= | NP_002403.2:n.81+1018T= | |
| NM_002412.4:c.81+1018T= | NP_002403.2:n.81+1018T= | |
| XM_005252682.2:c.-13+873T= | XP_005252739.1:n.-13+873T= | |
| NM_002412.5:c.-13+1018T= MANE Select | NP_002403.3:n.-13+1018T= |