Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44960569G>A , CM000679.2:g.44960569G>A | GRCh38 |
| NC_000017.10:g.43037937G>A , CM000679.1:g.43037937G>A | GRCh37 |
| NC_000017.9:g.40393463G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253407.4:c.598-202C>T (C1QL1) MANE Select | ENSP00000253407.2:n.598-202C>T | |
| ENST00000678938.1:c.-110+2507G>A (NMT1) | ENSP00000503621.1:n.-110+2507G>A | |
| ENST00000253407.3:c.598-202C>T (C1QL1) | ENSP00000253407.2:n.598-202C>T | |
| NM_006688.4:c.598-202C>T (C1QL1) | NP_006679.1:n.598-202C>T | |
| NM_006688.5:c.598-202C>T (C1QL1) MANE Select | NP_006679.1:n.598-202C>T |