Canonical Allele Identifier:
CA208717544
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.96016364 (NFE)
Genomes Max Group AF
0.96016364 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.63898984T>C , CM000672.2:g.63898984T>C | GRCh38 |
| NC_000010.10:g.65658744T>C , CM000672.1:g.65658744T>C | GRCh37 |
| NC_000010.9:g.65328750T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_946010.1:n.275+11308T>C | ||
| XR_946011.1:n.275+11308T>C | ||
| XR_946012.1:n.275+11308T>C | ||
| XR_946013.1:n.275+11308T>C |