Linked Data
dbSNP Id:
rs975639287
gnomAD v2:
2-217863310-C-T
gnomAD v3:
2-216998587-C-T
gnomAD v4:
2-216998587-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216998587C>T , CM000664.2:g.216998587C>T | GRCh38 |
| NC_000002.11:g.217863310C>T , CM000664.1:g.217863310C>T | GRCh37 |
| NC_000002.10:g.217571555C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923881.1:n.299+4569C>T | ||
| XR_923883.1:n.294+4569C>T | ||
| XR_923885.1:n.862+4569C>T | ||
| XR_923886.1:n.300-2460C>T | ||
| XR_923887.1:n.299+4569C>T | ||
| XR_001739169.1:n.11844+4569C>T | ||
| XR_001739170.2:n.8480+4569C>T | ||
| XR_001739171.2:n.8347+4569C>T |