Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519654G>C , CM000674.2:g.52519654G>C | GRCh38 |
| NC_000012.11:g.52913438G>C , CM000674.1:g.52913438G>C | GRCh37 |
| NC_000012.10:g.51199705G>C | NCBI36 |
| NG_008297.1:g.5806C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.555+88C>G MANE Select | ENSP00000252242.4:n.555+88C>G | |
| ENST00000252242.8:c.555+88C>G | ENSP00000252242.4:n.555+88C>G | |
| ENST00000549420.1:c.225+88C>G | ENSP00000447209.1:n.225+88C>G | |
| ENST00000552629.5:n.653+88C>G | ||
| NM_000424.3:c.555+88C>G | NP_000415.2:n.555+88C>G | |
| NM_000424.4:c.555+88C>G MANE Select | NP_000415.2:n.555+88C>G |