Linked Data
dbSNP Id:
rs1419567205
gnomAD v2:
9-22115933-T-C
gnomAD v3:
9-22115934-T-C
gnomAD v4:
9-22115934-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22115934T>C , CM000671.2:g.22115934T>C | GRCh38 |
| NC_000009.11:g.22115933T>C , CM000671.1:g.22115933T>C | GRCh37 |
| NC_000009.10:g.22105933T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2908+2135T>C | ||
| NR_047532.1:n.1697+2135T>C | ||
| NR_047534.1:n.961+2135T>C | ||
| NR_047535.1:n.857-2710T>C | ||
| NR_047536.1:n.721-2710T>C | ||
| NR_047537.1:n.781-4266T>C | ||
| NR_047538.1:n.645-4266T>C | ||
| NR_047543.1:n.990+2135T>C | ||
| NR_120536.1:n.645-4570T>C |