Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30006148C= , CM000668.2:g.30006148C= | GRCh38 |
| NC_000006.11:g.29973925C= , CM000668.1:g.29973925C= | GRCh37 |
| NC_000006.10:g.30081904C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688495.1:n.361-28753G= (POLR1HASP) | ||
| ENST00000376797.7:n.1346+1075G= (POLR1HASP) | ||
| ENST00000420251.5:n.709-3416G= (POLR1HASP) | ||
| ENST00000425604.5:n.265-3416G= (POLR1HASP) | ||
| ENST00000448093.5:n.575-3416G= (POLR1HASP) | ||
| ENST00000458060.1:n.969G= | ||
| ENST00000462773.6:n.169+9C= (HLA-J) | ||
| NR_024240.1:n.169+9C= (HLA-J) | ||
| NR_026751.1:n.709-3416G= (POLR1HASP) | ||
| NR_026751.2:n.714-3416G= (POLR1HASP) |