Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43997428T= , CM000668.2:g.43997428T= | GRCh38 |
| NC_000006.11:g.43965165T= , CM000668.1:g.43965165T= | GRCh37 |
| NC_000006.10:g.44073143T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125864.1:n.647-120A= (SCIRT) | ||
| NR_125865.1:n.431-120A= (SCIRT) | ||
| NM_001318876.2:c.946-444462T= (POLR1C) | NP_001305805.1:n.946-444462T= |