Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161219150C>G , CM000663.2:g.161219150C>G | GRCh38 |
| NC_000001.10:g.161188940C>G , CM000663.1:g.161188940C>G | GRCh37 |
| NC_000001.9:g.159455564C>G | NCBI36 |
| NG_029043.1:g.8854C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289902.2:c.*207C>G MANE Select | ENSP00000289902.1:n.*207C>G | |
| ENST00000289902.1:c.*207C>G | ENSP00000289902.1:n.*207C>G | |
| ENST00000367992.7:c.198+427C>G | ENSP00000356971.3:n.198+427C>G | |
| ENST00000490414.1:n.464C>G | ||
| NM_004106.1:c.*207C>G | NP_004097.1:n.*207C>G | |
| NM_004106.2:c.*207C>G MANE Select | NP_004097.1:n.*207C>G |