Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97598957T= , CM000672.2:g.97598957T= | GRCh38 |
| NC_000010.10:g.99358714T= , CM000672.1:g.99358714T= | GRCh37 |
| NC_000010.9:g.99348704T= | NCBI36 |
| NG_027922.1:g.19613T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370646.9:c.340+54T= MANE Select | ENSP00000359680.4:n.340+54T= | |
| ENST00000370646.8:c.340+54T= | ENSP00000359680.4:n.340+54T= | |
| ENST00000370647.8:c.212-2900T= | ENSP00000359681.4:n.212-2900T= | |
| ENST00000370649.3:c.212-2900T= | ENSP00000359683.3:n.212-2900T= | |
| ENST00000465608.1:n.721+54T= | ||
| NM_001134670.1:c.212-2900T= | NP_001128142.1:n.212-2900T= | |
| NM_138413.3:c.340+54T= | NP_612422.2:n.340+54T= | |
| NM_138413.4:c.340+54T= MANE Select | NP_612422.2:n.340+54T= | |
| NM_001134670.2:c.212-2900T= | NP_001128142.1:n.212-2900T= |