Canonical Allele Identifier:
CA12933939
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11467999 (NFE)
Genomes Max Group AF
0.11467999 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24998990C>T , CM000670.2:g.24998990C>T | GRCh38 |
| NC_000008.10:g.24856504C>T , CM000670.1:g.24856504C>T | GRCh37 |
| NC_000008.9:g.24912421C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_949591.1:n.474+6640C>T |