Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179143855T>C , CM000667.2:g.179143855T>C | GRCh38 |
| NC_000005.9:g.178570856T>C , CM000667.1:g.178570856T>C | GRCh37 |
| NC_000005.8:g.178503462T>C | NCBI36 |
| NG_023212.2:g.206474A>G | |
| NG_023212.3:g.206474A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698889.1:c.1630-3820A>G | ENSP00000514008.1:n.1630-3820A>G | |
| ENST00000251582.12:c.1630-3820A>G MANE Select | ENSP00000251582.7:n.1630-3820A>G | |
| ENST00000518335.3:c.1630-3820A>G | ENSP00000489888.2:n.1630-3820A>G | |
| ENST00000251582.11:c.1630-3820A>G | ENSP00000251582.7:n.1630-3820A>G | |
| NM_014244.4:c.1630-3820A>G | NP_055059.2:n.1630-3820A>G | |
| NM_014244.5:c.1630-3820A>G MANE Select | NP_055059.2:n.1630-3820A>G |