Linked Data
dbSNP Id:
rs1184699037
gnomAD v2:
9-22061623-A-T
gnomAD v3:
9-22061624-A-T
gnomAD v4:
9-22061624-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22061624A>T , CM000671.2:g.22061624A>T | GRCh38 |
| NC_000009.11:g.22061623A>T , CM000671.1:g.22061623A>T | GRCh37 |
| NC_000009.10:g.22051623A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_003529.3:n.2085-329A>T | ||
| NR_047532.1:n.1075+5237A>T | ||
| NR_047533.1:n.644+12396A>T | ||
| NR_047534.1:n.644+12396A>T | ||
| NR_047535.1:n.780+5237A>T | ||
| NR_047536.1:n.644+12396A>T | ||
| NR_047537.1:n.780+5237A>T | ||
| NR_047538.1:n.644+12396A>T | ||
| NR_047539.1:n.2085-329A>T | ||
| NR_047540.1:n.781-329A>T | ||
| NR_047541.1:n.781-2320A>T | ||
| NR_047542.1:n.780+5237A>T | ||
| NR_047543.1:n.780+5237A>T | ||
| NR_120536.1:n.644+12396A>T |