Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74005980T>C , CM000673.2:g.74005980T>C | GRCh38 |
| NC_000011.9:g.73717025T>C , CM000673.1:g.73717025T>C | GRCh37 |
| NC_000011.8:g.73394673T>C | NCBI36 |
| NG_011515.1:g.8258A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003356.4:c.338-47A>G MANE Select | NP_003347.1:n.338-47A>G |
| ENST00000314032.9:c.338-47A>G MANE Select | ENSP00000323740.4:n.338-47A>G |
| NM_003356.3:c.338-47A>G | NP_003347.1:n.338-47A>G |
| NM_022803.2:c.338-47A>G | NP_073714.1:n.338-47A>G |
| NM_022803.3:c.338-47A>G | NP_073714.1:n.338-47A>G |
| ENST00000314032.8:c.338-47A>G | ENSP00000323740.4:n.338-47A>G |
| ENST00000426995.2:c.338-47A>G | ENSP00000392143.2:n.338-47A>G |
| XR_950298.1:n.1768+9946T>C |