Canonical Allele Identifier:
CA323577585
Gene:
Linked Data
dbSNP Id:
rs117484931
gnomAD v2:
22-36525962-T-C
gnomAD v3:
22-36129914-T-C
gnomAD v4:
22-36129914-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36129914T>C , CM000684.2:g.36129914T>C | GRCh38 |
| NC_000022.10:g.36525962T>C , CM000684.1:g.36525962T>C | GRCh37 |
| NC_000022.9:g.34855908T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_430441.2:n.1547+3248A>G | ||
| XR_938219.1:n.3022A>G | ||
| XR_938220.1:n.3022A>G | ||
| XR_938221.1:n.1471+3948A>G | ||
| XR_001755516.2:n.4884A>G | ||
| XR_001755517.2:n.3111A>G | ||
| XR_001755518.2:n.4884A>G | ||
| XR_001755519.2:n.4884A>G | ||
| XR_001755520.2:n.4884A>G | ||
| XR_001755521.2:n.4884A>G | ||
| XR_001755522.2:n.1637-2141A>G | ||
| XR_001755525.2:n.1637-560A>G | ||
| XR_001755526.2:n.1637-2141A>G | ||
| XR_430441.4:n.1636+3248A>G |