Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4734503A= , CM000679.2:g.4734503A= | GRCh38 |
| NC_000017.10:g.4637798A= , CM000679.1:g.4637798A= | GRCh37 |
| NC_000017.9:g.4584547A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000293778.12:c.*24-24T= MANE Select | ENSP00000293778.7:n.*24-24T= | |
| ENST00000574412.6:c.*103T= | ENSP00000459592.2:n.*103T= | |
| ENST00000293778.10:c.*24-24T= | ENSP00000293778.6:n.*24-24T= | |
| ENST00000574412.5:c.*103T= | ENSP00000459592.1:n.*103T= | |
| ENST00000576153.5:n.580-24T= | ||
| NM_022059.3:c.*24-24T= | NP_071342.2:n.*24-24T= | |
| NM_022059.4:c.*24-24T= | NP_071342.2:n.*24-24T= | |
| NM_001386809.1:c.*24-24T= MANE Select | NP_001373738.1:n.*24-24T= |