Canonical Allele Identifier:
CA14959195
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50941925 (EAS)
Genomes Max Group AF
0.50941925 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36129933T>G , CM000684.2:g.36129933T>G | GRCh38 |
| NC_000022.10:g.36525981T>G , CM000684.1:g.36525981T>G | GRCh37 |
| NC_000022.9:g.34855927T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_430441.2:n.1547+3229A>C | ||
| XR_938219.1:n.3003A>C | ||
| XR_938220.1:n.3003A>C | ||
| XR_938221.1:n.1471+3929A>C | ||
| XR_001755516.2:n.4865A>C | ||
| XR_001755517.2:n.3092A>C | ||
| XR_001755518.2:n.4865A>C | ||
| XR_001755519.2:n.4865A>C | ||
| XR_001755520.2:n.4865A>C | ||
| XR_001755521.2:n.4865A>C | ||
| XR_001755522.2:n.1637-2160A>C | ||
| XR_001755525.2:n.1637-579A>C | ||
| XR_001755526.2:n.1637-2160A>C | ||
| XR_430441.4:n.1636+3229A>C |