Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.47388952G>A , CM000663.2:g.47388952G>A | GRCh38 |
| NC_000001.10:g.47854624G>A , CM000663.1:g.47854624G>A | GRCh37 |
| NC_000001.9:g.47627211G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699074.1:c.550-5329G>A (CMPK1) | ENSP00000514113.1:n.550-5329G>A | |
| NR_126355.1:n.405-2596C>T (LINC01389) |