Linked Data
dbSNP Id:
rs1299714699
gnomAD v2:
9-22114957-A-G
gnomAD v3:
9-22114958-A-G
gnomAD v4:
9-22114958-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22114958A>G , CM000671.2:g.22114958A>G | GRCh38 |
| NC_000009.11:g.22114957A>G , CM000671.1:g.22114957A>G | GRCh37 |
| NC_000009.10:g.22104957A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_003529.3:n.2908+1159A>G | ||
| NR_047532.1:n.1697+1159A>G | ||
| NR_047534.1:n.961+1159A>G | ||
| NR_047535.1:n.856+2563A>G | ||
| NR_047536.1:n.720+2563A>G | ||
| NR_047537.1:n.781-5242A>G | ||
| NR_047538.1:n.645-5242A>G | ||
| NR_047543.1:n.990+1159A>G | ||
| NR_120536.1:n.645-5546A>G |