Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.93000643A>T , CM000677.2:g.93000643A>T | GRCh38 |
| NC_000015.9:g.93543873A>T , CM000677.1:g.93543873A>T | GRCh37 |
| NC_000015.8:g.91344877A>T | NCBI36 |
| NG_012826.1:g.105323A>T | |
| NG_012826.2:g.105323A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000625662.3:c.3757+3A>T | ||
| ENST00000394196.9:c.4137+3A>T MANE Select | ENSP00000377747.4:n.4137+3A>T | |
| ENST00000636306.1:n.1697+3A>T | ||
| ENST00000394196.8:c.4137+3A>T | ENSP00000377747.4:n.4137+3A>T | |
| ENST00000625662.2:c.540+3A>T | ||
| ENST00000626874.2:c.4137+3A>T | ENSP00000486629.1:n.4137+3A>T | |
| ENST00000629104.1:c.478+3A>T | ENSP00000485681.1:n.478+3A>T | |
| NM_001271.3:c.4137+3A>T | NP_001262.3:n.4137+3A>T | |
| NM_001271.4:c.4137+3A>T MANE Select | NP_001262.3:n.4137+3A>T |