Canonical Allele Identifier:
CA233536081
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30419989 (EAS)
Genomes Max Group AF
0.30419989 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21130019T>G , CM000674.2:g.21130019T>G | GRCh38 |
| NC_000012.11:g.21282953T>G , CM000674.1:g.21282953T>G | GRCh37 |
| NC_000012.10:g.21174220T>G | NCBI36 |
| NG_011745.1:g.3826T>G , LRG_1022:g.3826T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543498.5:c.281-11495T>G | ||
| ENST00000585342.5:c.371-1104T>G | ENSP00000467594.1:n.371-1104T>G | |
| ENST00000590779.5:c.377-1104T>G | ||
| ENST00000592513.1:c.358-1104T>G | ||
| ENST00000593147.5:c.406-1104T>G | ENSP00000467209.1:n.406-1104T>G |