Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6534463C= , CM000674.2:g.6534463C= | GRCh38 |
| NC_000012.11:g.6643629C= , CM000674.1:g.6643629C= | GRCh37 |
| NC_000012.10:g.6513890C= | NCBI36 |
| NG_007073.2:g.4973C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229239.9:c.-130C= | ENSP00000229239.5:n.-130C= | |
| NM_001289745.1:c.-222C= | NP_001276674.1:n.-222C= | |
| NM_002046.5:c.-130C= | NP_002037.2:n.-130C= |