Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120737835A>G , CM000674.2:g.120737835A>G | GRCh38 |
| NC_000012.11:g.121175638A>G , CM000674.1:g.121175638A>G | GRCh37 |
| NC_000012.10:g.119660021A>G | NCBI36 |
| NG_007991.1:g.17068A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000017.4:c.473-2A>G MANE Select | NP_000008.1:n.473-2A>G |
| ENST00000242592.9:c.473-2A>G MANE Select | ENSP00000242592.4:n.473-2A>G |
| NM_000017.3:c.473-2A>G | NP_000008.1:n.473-2A>G |
| NM_001302554.1:c.473-214A>G | NP_001289483.1:n.473-214A>G |
| NM_001302554.2:c.473-214A>G | NP_001289483.1:n.473-214A>G |
| ENST00000242592.8:c.473-2A>G | ENSP00000242592.4:n.473-2A>G |
| ENST00000411593.2:c.473-214A>G | ENSP00000401045.2:n.473-214A>G |