Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161219068C= , CM000663.2:g.161219068C= | GRCh38 |
| NC_000001.10:g.161188858C= , CM000663.1:g.161188858C= | GRCh37 |
| NC_000001.9:g.159455482C= | NCBI36 |
| NG_029043.1:g.8772C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289902.2:c.*125C= MANE Select | ENSP00000289902.1:n.*125C= | |
| ENST00000289902.1:c.*125C= | ENSP00000289902.1:n.*125C= | |
| ENST00000367992.7:c.198+345C= | ENSP00000356971.3:n.198+345C= | |
| ENST00000490414.1:n.382C= | ||
| NM_004106.1:c.*125C= | NP_004097.1:n.*125C= | |
| NM_004106.2:c.*125C= MANE Select | NP_004097.1:n.*125C= |