Canonical Allele Identifier:
CA14793175
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1930104 (EAS)
Genomes Max Group AF
0.1930104 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.1778944C>T , CM000682.2:g.1778944C>T | GRCh38 |
| NC_000020.10:g.1759590C>T , CM000682.1:g.1759590C>T | GRCh37 |
| NC_000020.9:g.1707590C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418979.2:n.335-96G>A | ||
| ENST00000458670.1:n.86-96G>A | ||
| NR_037142.1:n.86-96G>A |