Canonical Allele Identifier:
CA262352017
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03653193 (SAS)
Genomes Max Group AF
0.03653193 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.62501677T>C , CM000676.2:g.62501677T>C | GRCh38 |
| NC_000014.8:g.62968395T>C , CM000676.1:g.62968395T>C | GRCh37 |
| NC_000014.7:g.62038148T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943932.1:n.116-2364T>C | ||
| XR_943932.2:n.103-2364T>C |