Canonical Allele Identifier:
CA15259731
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68261226 (AFR)
Genomes Max Group AF
0.68261226 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53066198G>T , CM000665.2:g.53066198G>T | GRCh38 |
| NC_000003.11:g.53100214G>T , CM000665.1:g.53100214G>T | GRCh37 |
| NC_000003.10:g.53075254G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607203.1:c.317+11490C>A | ||
| ENST00000607283.5:c.464+11490C>A | ||
| ENST00000607495.5:c.447+11490C>A |