Canonical Allele Identifier:
CA12321867
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06303019 (EAS)
Genomes Max Group AF
0.06303019 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32948074A>G , CM000668.2:g.32948074A>G | GRCh38 |
| NC_000006.11:g.32915851A>G , CM000668.1:g.32915851A>G | GRCh37 |
| NC_000006.10:g.33023829A>G | NCBI36 |
| NG_012006.1:g.10049T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429234.1:c.88+4875T>C | ENSP00000412457.1:n.88+4875T>C |