Canonical Allele Identifier:
CA2403722535
Gene:
Linked Data
dbSNP Id:
rs2059868329
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36129917A>G , CM000684.2:g.36129917A>G | GRCh38 |
| NC_000022.10:g.36525965A>G , CM000684.1:g.36525965A>G | GRCh37 |
| NC_000022.9:g.34855911A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_430441.2:n.1547+3245T>C | ||
| XR_938219.1:n.3019T>C | ||
| XR_938220.1:n.3019T>C | ||
| XR_938221.1:n.1471+3945T>C | ||
| XR_001755516.2:n.4881T>C | ||
| XR_001755517.2:n.3108T>C | ||
| XR_001755518.2:n.4881T>C | ||
| XR_001755519.2:n.4881T>C | ||
| XR_001755520.2:n.4881T>C | ||
| XR_001755521.2:n.4881T>C | ||
| XR_001755522.2:n.1637-2144T>C | ||
| XR_001755525.2:n.1637-563T>C | ||
| XR_001755526.2:n.1637-2144T>C | ||
| XR_430441.4:n.1636+3245T>C |