Canonical Allele Identifier:
CA13459230
Gene:
Linked Data
dbSNP Id:
rs1355223
gnomAD v2:
11-34764479-A-G
gnomAD v3:
11-34742932-A-G
gnomAD v4:
11-34742932-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34742932A>G , CM000673.2:g.34742932A>G | GRCh38 |
| NC_000011.9:g.34764479A>G , CM000673.1:g.34764479A>G | GRCh37 |
| NC_000011.8:g.34721055A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000604513.1:n.27A>G | ||
| XR_428897.2:n.429+10503A>G | ||
| XR_931188.1:n.543+10503A>G | ||
| XR_931189.1:n.704+10503A>G | ||
| XR_931190.1:n.489+10503A>G | ||
| XR_931191.1:n.539+10503A>G | ||
| XR_001748174.1:n.705+10503A>G | ||
| XR_001748175.1:n.705+10503A>G | ||
| XR_001748176.1:n.866+10503A>G | ||
| XR_002957246.1:n.489+10503A>G |