Canonical Allele Identifier:
CA14330734
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58112301 (NFE)
Genomes Max Group AF
0.58112301 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.82560778T>C , CM000678.2:g.82560778T>C | GRCh38 |
| NC_000016.9:g.82594383T>C , CM000678.1:g.82594383T>C | GRCh37 |
| NC_000016.8:g.81151884T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_243484.2:n.555+14012A>G | ||
| XR_933799.1:n.556-6530A>G |