Canonical Allele Identifier:
CA11316786
Gene:
Linked Data
dbSNP Id:
rs1445130
gnomAD v2:
2-18834651-A-G
gnomAD v3:
2-18653385-A-G
gnomAD v4:
2-18653385-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.18653385A>G , CM000664.2:g.18653385A>G | GRCh38 |
| NC_000002.11:g.18834651A>G , CM000664.1:g.18834651A>G | GRCh37 |
| NC_000002.10:g.18698132A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_939775.1:n.216+9085A>G | ||
| XR_939776.1:n.216+9085A>G | ||
| XR_001739308.1:n.567+9085A>G | ||
| XR_001739309.1:n.571+9085A>G | ||
| XR_001739310.1:n.565+9085A>G | ||
| XR_001739311.1:n.566+9085A>G | ||
| XR_001739312.1:n.697+9085A>G | ||
| XR_002959371.1:n.697+9085A>G | ||
| XR_939776.2:n.564+9085A>G |