Linked Data
dbSNP Id:
rs1323369348
gnomAD v2:
9-22115952-T-C
gnomAD v3:
9-22115953-T-C
gnomAD v4:
9-22115953-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22115953T>C , CM000671.2:g.22115953T>C | GRCh38 |
| NC_000009.11:g.22115952T>C , CM000671.1:g.22115952T>C | GRCh37 |
| NC_000009.10:g.22105952T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2908+2154T>C | ||
| NR_047532.1:n.1697+2154T>C | ||
| NR_047534.1:n.961+2154T>C | ||
| NR_047535.1:n.857-2691T>C | ||
| NR_047536.1:n.721-2691T>C | ||
| NR_047537.1:n.781-4247T>C | ||
| NR_047538.1:n.645-4247T>C | ||
| NR_047543.1:n.990+2154T>C | ||
| NR_120536.1:n.645-4551T>C |