Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969793C= , CM000668.2:g.31969793C= | GRCh38 |
| NC_000006.11:g.31937570C= , CM000668.1:g.31937570C= | GRCh37 |
| NC_000006.10:g.32045549C= | NCBI36 |
| NG_032652.1:g.15990C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2867C= | ENSP00000419905.1:n.*2867C= | |
| XR_926301.3:n.3835C= |