Linked Data
dbSNP Id:
rs1451719482
gnomAD v2:
9-22114569-G-C
gnomAD v3:
9-22114570-G-C
gnomAD v4:
9-22114570-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22114570G>C , CM000671.2:g.22114570G>C | GRCh38 |
| NC_000009.11:g.22114569G>C , CM000671.1:g.22114569G>C | GRCh37 |
| NC_000009.10:g.22104569G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2908+771G>C | ||
| NR_047532.1:n.1697+771G>C | ||
| NR_047534.1:n.961+771G>C | ||
| NR_047535.1:n.856+2175G>C | ||
| NR_047536.1:n.720+2175G>C | ||
| NR_047537.1:n.781-5630G>C | ||
| NR_047538.1:n.645-5630G>C | ||
| NR_047543.1:n.990+771G>C | ||
| NR_120536.1:n.645-5934G>C |