Linked Data
dbSNP Id:
rs1050693082
gnomAD v2:
14-22937638-G-A
gnomAD v3:
14-22468646-G-A
gnomAD v4:
14-22468646-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22468646G>A , CM000676.2:g.22468646G>A | GRCh38 |
| NC_000014.8:g.22937638G>A , CM000676.1:g.22937638G>A | GRCh37 |
| NC_000014.7:g.22007478G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943593.1:n.776-3360C>T | ||
| XR_943594.1:n.541-3360C>T | ||
| XR_943595.1:n.541-3360C>T | ||
| XR_943596.1:n.776-3360C>T | ||
| NR_148361.1:n.225+12595C>T | ||
| XR_001750629.1:n.292-3360C>T |