Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161219081C>T , CM000663.2:g.161219081C>T | GRCh38 |
| NC_000001.10:g.161188871C>T , CM000663.1:g.161188871C>T | GRCh37 |
| NC_000001.9:g.159455495C>T | NCBI36 |
| NG_029043.1:g.8785C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289902.2:c.*138C>T MANE Select | ENSP00000289902.1:n.*138C>T | |
| ENST00000289902.1:c.*138C>T | ENSP00000289902.1:n.*138C>T | |
| ENST00000367992.7:c.198+358C>T | ENSP00000356971.3:n.198+358C>T | |
| ENST00000490414.1:n.395C>T | ||
| NM_004106.1:c.*138C>T | NP_004097.1:n.*138C>T | |
| NM_004106.2:c.*138C>T MANE Select | NP_004097.1:n.*138C>T |