Canonical Allele Identifier:
CA13257207
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37439147 (NFE)
Genomes Max Group AF
0.37439147 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.3616727T>C , CM000672.2:g.3616727T>C | GRCh38 |
| NC_000010.10:g.3658919T>C , CM000672.1:g.3658919T>C | GRCh37 |
| NC_000010.9:g.3648919T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_131187.1:n.163-131961T>C |