Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.47388744A>T , CM000663.2:g.47388744A>T | GRCh38 |
| NC_000001.10:g.47854416A>T , CM000663.1:g.47854416A>T | GRCh37 |
| NC_000001.9:g.47627003A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699074.1:c.550-5537A>T (CMPK1) | ENSP00000514113.1:n.550-5537A>T | |
| NR_126355.1:n.405-2388T>A (LINC01389) |