Canonical Allele Identifier:
CA171706479
Gene:
Linked Data
dbSNP Id:
rs546353230
gnomAD v2:
8-5765072-A-C
gnomAD v3:
8-5907550-A-C
gnomAD v4:
8-5907550-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.5907550A>C , CM000670.2:g.5907550A>C | GRCh38 |
| NC_000008.10:g.5765072A>C , CM000670.1:g.5765072A>C | GRCh37 |
| NC_000008.9:g.5752480A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_941374.1:n.308-7819T>G | ||
| XR_941375.1:n.308-7819T>G | ||
| XR_941376.1:n.406-7819T>G | ||
| XR_941377.1:n.308-7819T>G | ||
| XR_941378.1:n.216-7819T>G | ||
| XR_001745765.1:n.308-7819T>G | ||
| XR_001745766.1:n.406-7819T>G | ||
| XR_001745767.1:n.216-7819T>G | ||
| XR_001745768.1:n.308-7819T>G | ||
| XR_941374.2:n.308-7819T>G | ||
| XR_941375.2:n.308-7819T>G |