Canonical Allele Identifier:
CA12755632
Gene:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25539988 (NFE)
Genomes Max Group AF
0.25539988 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.20130192C>T , CM000670.2:g.20130192C>T | GRCh38 |
| NC_000008.10:g.19987703C>T , CM000670.1:g.19987703C>T | GRCh37 |
| NC_000008.9:g.20031983C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_949563.1:n.3408+273C>T | ||
| XR_949563.2:n.3400+273C>T |