Canonical Allele Identifier:
CA323577581
Gene:
Linked Data
dbSNP Id:
rs182628367
gnomAD v2:
22-36525952-T-C
gnomAD v3:
22-36129904-T-C
gnomAD v4:
22-36129904-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36129904T>C , CM000684.2:g.36129904T>C | GRCh38 |
| NC_000022.10:g.36525952T>C , CM000684.1:g.36525952T>C | GRCh37 |
| NC_000022.9:g.34855898T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_430441.2:n.1547+3258A>G | ||
| XR_938219.1:n.3032A>G | ||
| XR_938220.1:n.3032A>G | ||
| XR_938221.1:n.1471+3958A>G | ||
| XR_001755516.2:n.4894A>G | ||
| XR_001755517.2:n.3121A>G | ||
| XR_001755518.2:n.4894A>G | ||
| XR_001755519.2:n.4894A>G | ||
| XR_001755520.2:n.4894A>G | ||
| XR_001755521.2:n.4894A>G | ||
| XR_001755522.2:n.1637-2131A>G | ||
| XR_001755525.2:n.1637-550A>G | ||
| XR_001755526.2:n.1637-2131A>G | ||
| XR_430441.4:n.1636+3258A>G |