Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516567G= , CM000674.2:g.52516567G= | GRCh38 |
| NC_000012.11:g.52910351G= , CM000674.1:g.52910351G= | GRCh37 |
| NC_000012.10:g.51196618G= | NCBI36 |
| NG_008297.1:g.8893C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1439+70C= MANE Select | ENSP00000252242.4:n.1439+70C= | |
| ENST00000252242.8:c.1439+70C= | ENSP00000252242.4:n.1439+70C= | |
| ENST00000548409.5:c.561+70C= | ||
| ENST00000549511.5:n.646+70C= | ||
| ENST00000552629.5:n.1607C= | ||
| NM_000424.3:c.1439+70C= | NP_000415.2:n.1439+70C= | |
| NM_000424.4:c.1439+70C= MANE Select | NP_000415.2:n.1439+70C= |