Linked Data
dbSNP Id:
rs941885522
gnomAD v2:
9-22115943-C-T
gnomAD v3:
9-22115944-C-T
gnomAD v4:
9-22115944-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22115944C>T , CM000671.2:g.22115944C>T | GRCh38 |
| NC_000009.11:g.22115943C>T , CM000671.1:g.22115943C>T | GRCh37 |
| NC_000009.10:g.22105943C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2908+2145C>T | ||
| NR_047532.1:n.1697+2145C>T | ||
| NR_047534.1:n.961+2145C>T | ||
| NR_047535.1:n.857-2700C>T | ||
| NR_047536.1:n.721-2700C>T | ||
| NR_047537.1:n.781-4256C>T | ||
| NR_047538.1:n.645-4256C>T | ||
| NR_047543.1:n.990+2145C>T | ||
| NR_120536.1:n.645-4560C>T |