Canonical Allele Identifier:
CA11810123
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30010284 (SAS)
Genomes Max Group AF
0.30010284 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.53933078T>C , CM000666.2:g.53933078T>C | GRCh38 |
| NC_000004.11:g.54799245T>C , CM000666.1:g.54799245T>C | GRCh37 |
| NC_000004.10:g.54494002T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507166.5:c.1018-341847T>C | ENSP00000423325.1:n.1018-341847T>C |