Linked Data
dbSNP Id:
rs72654252
gnomAD v2:
9-22114554-C-A
gnomAD v3:
9-22114555-C-A
gnomAD v4:
9-22114555-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22114555C>A , CM000671.2:g.22114555C>A | GRCh38 |
| NC_000009.11:g.22114554C>A , CM000671.1:g.22114554C>A | GRCh37 |
| NC_000009.10:g.22104554C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2908+756C>A | ||
| NR_047532.1:n.1697+756C>A | ||
| NR_047534.1:n.961+756C>A | ||
| NR_047535.1:n.856+2160C>A | ||
| NR_047536.1:n.720+2160C>A | ||
| NR_047537.1:n.781-5645C>A | ||
| NR_047538.1:n.645-5645C>A | ||
| NR_047543.1:n.990+756C>A | ||
| NR_120536.1:n.645-5949C>A |