Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161219163C= , CM000663.2:g.161219163C= | GRCh38 |
| NC_000001.10:g.161188953C= , CM000663.1:g.161188953C= | GRCh37 |
| NC_000001.9:g.159455577C= | NCBI36 |
| NG_029043.1:g.8867C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289902.2:c.*220C= MANE Select | ENSP00000289902.1:n.*220C= | |
| ENST00000289902.1:c.*220C= | ENSP00000289902.1:n.*220C= | |
| ENST00000367992.7:c.198+440C= | ENSP00000356971.3:n.198+440C= | |
| ENST00000490414.1:n.477C= | ||
| NM_004106.1:c.*220C= | NP_004097.1:n.*220C= | |
| NM_004106.2:c.*220C= MANE Select | NP_004097.1:n.*220C= |