Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52490955T>C , CM000674.2:g.52490955T>C | GRCh38 |
| NC_000012.11:g.52884739T>C , CM000674.1:g.52884739T>C | GRCh37 |
| NC_000012.10:g.51171006T>C | NCBI36 |
| NG_008298.1:g.7443A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005554.4:c.817-2A>G MANE Select | NP_005545.1:n.817-2A>G |
| ENST00000330722.7:c.817-2A>G MANE Select | ENSP00000369317.3:n.817-2A>G |
| NM_005554.3:c.817-2A>G | NP_005545.1:n.817-2A>G |
| ENST00000330722.6:c.817-2A>G | ENSP00000369317.3:n.817-2A>G |
| ENST00000549600.1:n.203A>G | |
| ENST00000549754.1:n.166-2A>G | |
| ENST00000549898.5:n.338-2A>G |