MutSpliceDB:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12089256G>T , CM000672.2:g.12089256G>T | GRCh38 |
| NC_000010.10:g.12131255G>T , CM000672.1:g.12131255G>T | GRCh37 |
| NC_000010.9:g.12171261G>T | NCBI36 |
| NG_033248.1:g.25340G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263035.9:c.987+1G>T MANE Select | ENSP00000263035.4:n.987+1G>T | |
| ENST00000263035.8:c.987+1G>T | ENSP00000263035.4:n.987+1G>T | |
| ENST00000415935.1:c.81+1G>T | ENSP00000400625.1:n.81+1G>T | |
| ENST00000437298.1:c.792+1G>T | ENSP00000388163.1:n.792+1G>T | |
| ENST00000465617.1:n.299+1527G>T | ||
| NM_018706.6:c.987+1G>T | NP_061176.3:n.987+1G>T | |
| NM_018706.7:c.987+1G>T MANE Select | NP_061176.4:n.987+1G>T |