Canonical Allele Identifier:
CA54966623
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44550231 (EAS)
Genomes Max Group AF
0.44550231 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.122379314C>T , CM000664.2:g.122379314C>T | GRCh38 |
| NC_000002.11:g.123136890C>T , CM000664.1:g.123136890C>T | GRCh37 |
| NC_000002.10:g.122853360C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923278.1:n.556-13649C>T | ||
| XR_001739684.1:n.556-13649C>T |