Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45293364A= , CM000684.2:g.45293364A= | GRCh38 |
| NC_000022.10:g.45689245A= , CM000684.1:g.45689245A= | GRCh37 |
| NC_000022.9:g.44067909A= | NCBI36 |
| NG_016203.1:g.13378A= | |
| NG_016203.2:g.13378A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216211.9:c.704+51A= MANE Select | ENSP00000216211.4:n.704+51A= | |
| ENST00000216211.8:c.704+51A= | ENSP00000216211.4:n.704+51A= | |
| ENST00000396082.2:c.341+51A= | ENSP00000379391.2:n.341+51A= | |
| NM_001167574.1:c.341+51A= | NP_001161046.1:n.341+51A= | |
| NM_006953.3:c.704+51A= | NP_008884.1:n.704+51A= | |
| XM_011530364.1:c.710+51A= | XP_011528666.1:n.710+51A= | |
| XM_011530365.1:c.347+51A= | XP_011528667.1:n.347+51A= | |
| NM_006953.4:c.704+51A= MANE Select | NP_008884.1:n.704+51A= | |
| NM_001167574.2:c.341+51A= | NP_001161046.1:n.341+51A= |