Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12904660T= , CM000686.2:g.12904660T= | GRCh38 |
| NC_000024.9:g.15016571T= , CM000686.1:g.15016571T= | GRCh37 |
| NC_000024.8:g.13525965T= | NCBI36 |
| NG_012831.1:g.5553T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360160.8:c.-3+246T= | ENSP00000353284.4:n.-3+246T= | |
| ENST00000454054.5:c.-79-198T= | ENSP00000398953.1:n.-79-198T= | |
| NM_001122665.2:c.-3+246T= | NP_001116137.1:n.-3+246T= | |
| NM_001122665.3:c.-3+246T= | NP_001116137.1:n.-3+246T= |