Canonical Allele Identifier:
CA171706474
Gene:
Linked Data
dbSNP Id:
rs781433048
gnomAD v2:
8-5765060-G-C
gnomAD v3:
8-5907538-G-C
gnomAD v4:
8-5907538-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.5907538G>C , CM000670.2:g.5907538G>C | GRCh38 |
| NC_000008.10:g.5765060G>C , CM000670.1:g.5765060G>C | GRCh37 |
| NC_000008.9:g.5752468G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_941374.1:n.308-7807C>G | ||
| XR_941375.1:n.308-7807C>G | ||
| XR_941376.1:n.406-7807C>G | ||
| XR_941377.1:n.308-7807C>G | ||
| XR_941378.1:n.216-7807C>G | ||
| XR_001745765.1:n.308-7807C>G | ||
| XR_001745766.1:n.406-7807C>G | ||
| XR_001745767.1:n.216-7807C>G | ||
| XR_001745768.1:n.308-7807C>G | ||
| XR_941374.2:n.308-7807C>G | ||
| XR_941375.2:n.308-7807C>G |