Canonical Allele Identifier:
CA14980453
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.86999397 (AFR)
Genomes Max Group AF
0.86999397 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21076765T>C , CM000684.2:g.21076765T>C | GRCh38 |
| NC_000022.10:g.21431054T>C , CM000684.1:g.21431054T>C | GRCh37 |
| NC_000022.9:g.19761054T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641915.1:n.138+4116A>G |