Canonical Allele Identifier:
CA12223276
Gene:
Linked Data
dbSNP Id:
rs1294410
gnomAD v2:
6-6738752-T-C
gnomAD v3:
6-6738519-T-C
gnomAD v4:
6-6738519-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6738519T>C , CM000668.2:g.6738519T>C | GRCh38 |
| NC_000006.11:g.6738752T>C , CM000668.1:g.6738752T>C | GRCh37 |
| NC_000006.10:g.6683751T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_241968.2:n.601+6418A>G | ||
| XR_926420.1:n.602+6418A>G | ||
| XR_926421.1:n.605+6418A>G | ||
| XR_926422.1:n.602+6418A>G | ||
| XR_926423.1:n.365-26661A>G | ||
| XR_926424.1:n.92+390A>G | ||
| XR_926425.1:n.316+511A>G | ||
| XR_926426.1:n.609+6418A>G | ||
| XR_926427.1:n.602+6418A>G | ||
| XR_001743942.1:n.756+6418A>G | ||
| XR_001743943.2:n.760+6418A>G | ||
| XR_001743945.1:n.755+6418A>G | ||
| XR_001743946.1:n.755+6418A>G | ||
| XR_926420.2:n.646+6418A>G | ||
| XR_926424.2:n.114+390A>G | ||
| XR_926425.3:n.1416+511A>G |