Linked Data
dbSNP Id:
rs571951490
gnomAD v2:
9-22114515-A-C
gnomAD v3:
9-22114516-A-C
gnomAD v4:
9-22114516-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22114516A>C , CM000671.2:g.22114516A>C | GRCh38 |
| NC_000009.11:g.22114515A>C , CM000671.1:g.22114515A>C | GRCh37 |
| NC_000009.10:g.22104515A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2908+717A>C | ||
| NR_047532.1:n.1697+717A>C | ||
| NR_047534.1:n.961+717A>C | ||
| NR_047535.1:n.856+2121A>C | ||
| NR_047536.1:n.720+2121A>C | ||
| NR_047537.1:n.781-5684A>C | ||
| NR_047538.1:n.645-5684A>C | ||
| NR_047543.1:n.990+717A>C | ||
| NR_120536.1:n.645-5988A>C |