Canonical Allele Identifier:
CA12010813
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47212993 (EAS)
Genomes Max Group AF
0.47212993 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135021015T>G , CM000667.2:g.135021015T>G | GRCh38 |
| NC_000005.9:g.134356705T>G , CM000667.1:g.134356705T>G | GRCh37 |
| NC_000005.8:g.134384604T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001742894.1:n.378+870A>C |