Linked Data
dbSNP Id:
rs143517045
gnomAD v2:
9-22114889-A-G
gnomAD v3:
9-22114890-A-G
gnomAD v4:
9-22114890-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22114890A>G , CM000671.2:g.22114890A>G | GRCh38 |
| NC_000009.11:g.22114889A>G , CM000671.1:g.22114889A>G | GRCh37 |
| NC_000009.10:g.22104889A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2908+1091A>G | ||
| NR_047532.1:n.1697+1091A>G | ||
| NR_047534.1:n.961+1091A>G | ||
| NR_047535.1:n.856+2495A>G | ||
| NR_047536.1:n.720+2495A>G | ||
| NR_047537.1:n.781-5310A>G | ||
| NR_047538.1:n.645-5310A>G | ||
| NR_047543.1:n.990+1091A>G | ||
| NR_120536.1:n.645-5614A>G |