Canonical Allele Identifier:
CA16238809
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.80942809 (AMR)
Genomes Max Group AF
0.80942809 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.114513597C>T , CM000667.2:g.114513597C>T | GRCh38 |
| NC_000005.9:g.113849294C>T , CM000667.1:g.113849294C>T | GRCh37 |
| NC_000005.8:g.113877193C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_130785.1:n.343-17419G>A |