Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2396631A>G , CM000682.2:g.2396631A>G | GRCh38 |
| NC_000020.10:g.2377277A>G , CM000682.1:g.2377277A>G | GRCh37 |
| NC_000020.9:g.2325277A>G | NCBI36 |
| NG_031917.1:g.20724A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198994.3:c.543+7A>G MANE Select | NP_945345.2:n.543+7A>G |
| ENST00000202625.7:c.543+7A>G MANE Select | ENSP00000202625.2:n.543+7A>G |
| NM_001254734.1:c.543+7A>G | NP_001241663.1:n.543+7A>G |
| NM_001254734.2:c.543+7A>G | NP_001241663.1:n.543+7A>G |
| NM_198994.2:c.543+7A>G | NP_945345.2:n.543+7A>G |
| ENST00000202625.6:c.543+7A>G | ENSP00000202625.2:n.543+7A>G |
| ENST00000381423.1:c.543+7A>G | ENSP00000370831.1:n.543+7A>G |
| ENST00000477505.1:n.175-1287A>G |