Canonical Allele Identifier:
CA13837618
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46199418 (AMR)
Genomes Max Group AF
0.46199418 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.104826293C>T , CM000675.2:g.104826293C>T | GRCh38 |
| NC_000013.10:g.105478644C>T , CM000675.1:g.105478644C>T | GRCh37 |
| NC_000013.9:g.104276645C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001749993.1:n.242-2506G>A | ||
| XR_001749994.1:n.243+10910G>A | ||
| XR_001749995.1:n.253+10910G>A | ||
| XR_001749996.1:n.1897-2762C>T |