Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180578383C= , CM000667.2:g.180578383C= | GRCh38 |
| NC_000005.9:g.180005383C= , CM000667.1:g.180005383C= | GRCh37 |
| NC_000005.8:g.179937989C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393356.5:c.*4183C= | ENSP00000377024.1:n.*4183C= | |
| NM_001303241.1:c.*4183C= | NP_001290170.1:n.*4183C= | |
| NM_001303241.2:c.*4183C= | NP_001290170.1:n.*4183C= |