Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.16456104T= , CM000674.2:g.16456104T= | GRCh38 |
| NC_000012.11:g.16609038T= , CM000674.1:g.16609038T= | GRCh37 |
| NC_000012.10:g.16500305T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000538857.1:n.482+72500T= | ||
| ENST00000539036.5:n.400+72500T= | ||
| XR_001749030.1:n.9955T= | ||
| XR_001749031.1:n.9758T= |