Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43997258C>T , CM000668.2:g.43997258C>T | GRCh38 |
| NC_000006.11:g.43964995C>T , CM000668.1:g.43964995C>T | GRCh37 |
| NC_000006.10:g.44072973C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125864.1:n.697G>A (SCIRT) | ||
| NR_125865.1:n.481G>A (SCIRT) | ||
| NM_001318876.2:c.946-444632C>T (POLR1C) | NP_001305805.1:n.946-444632C>T |