Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43997302A>G , CM000668.2:g.43997302A>G | GRCh38 |
| NC_000006.11:g.43965039A>G , CM000668.1:g.43965039A>G | GRCh37 |
| NC_000006.10:g.44073017A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125864.1:n.653T>C (SCIRT) | ||
| NR_125865.1:n.437T>C (SCIRT) | ||
| NM_001318876.2:c.946-444588A>G (POLR1C) | NP_001305805.1:n.946-444588A>G |