Canonical Allele Identifier:
CA13959906
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61694296 (NFE)
Genomes Max Group AF
0.61694296 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.54185761C>T , CM000676.2:g.54185761C>T | GRCh38 |
| NC_000014.8:g.54652479C>T , CM000676.1:g.54652479C>T | GRCh37 |
| NC_000014.7:g.53722229C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943882.1:n.360-331G>A | ||
| XR_943883.1:n.360-331G>A | ||
| XR_943884.1:n.360-331G>A | ||
| XR_001750980.1:n.360-331G>A | ||
| XR_943882.2:n.360-331G>A | ||
| XR_943883.2:n.360-331G>A |