Canonical Allele Identifier:
CA13036288
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9069171 (EAS)
Genomes Max Group AF
0.9069171 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108126198G>T , CM000671.2:g.108126198G>T | GRCh38 |
| NC_000009.11:g.110888478G>T , CM000671.1:g.110888478G>T | GRCh37 |
| NC_000009.10:g.109928299G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_930239.1:n.461-72904C>A | ||
| XR_001746881.1:n.668-72904C>A | ||
| XR_001746882.1:n.668-72904C>A |