Linked Data
dbSNP Id:
rs17103186
gnomAD v2:
1-47854514-C-T
gnomAD v3:
1-47388842-C-T
gnomAD v4:
1-47388842-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.47388842C>T , CM000663.2:g.47388842C>T | GRCh38 |
| NC_000001.10:g.47854514C>T , CM000663.1:g.47854514C>T | GRCh37 |
| NC_000001.9:g.47627101C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699074.1:c.550-5439C>T (CMPK1) | ENSP00000514113.1:n.550-5439C>T | |
| NR_126355.1:n.405-2486G>A (LINC01389) |