Linked Data
dbSNP Id:
rs962906047
gnomAD v2:
9-22056687-C-T
gnomAD v3:
9-22056688-C-T
gnomAD v4:
9-22056688-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22056688C>T , CM000671.2:g.22056688C>T | GRCh38 |
| NC_000009.11:g.22056687C>T , CM000671.1:g.22056687C>T | GRCh37 |
| NC_000009.10:g.22046687C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.1388+301C>T | ||
| NR_047532.1:n.1075+301C>T | ||
| NR_047533.1:n.644+7460C>T | ||
| NR_047534.1:n.644+7460C>T | ||
| NR_047535.1:n.780+301C>T | ||
| NR_047536.1:n.644+7460C>T | ||
| NR_047537.1:n.780+301C>T | ||
| NR_047538.1:n.644+7460C>T | ||
| NR_047539.1:n.1388+301C>T | ||
| NR_047540.1:n.780+301C>T | ||
| NR_047541.1:n.780+301C>T | ||
| NR_047542.1:n.780+301C>T | ||
| NR_047543.1:n.780+301C>T | ||
| NR_120536.1:n.644+7460C>T |