Canonical Allele Identifier:
CA48687109
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39783585 (NFE)
Genomes Max Group AF
0.39783585 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.57706920C>T , CM000664.2:g.57706920C>T | GRCh38 |
| NC_000002.11:g.57934055C>T , CM000664.1:g.57934055C>T | GRCh37 |
| NC_000002.10:g.57787559C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_245007.2:n.592+337C>T | ||
| XR_940112.1:n.551G>A | ||
| XR_940113.1:n.415+337C>T | ||
| XR_940116.1:n.68-37499G>A | ||
| XR_001739483.1:n.4345G>A | ||
| XR_245007.3:n.1109+337C>T | ||
| XR_940113.2:n.936+337C>T |