Canonical Allele Identifier:
CA11134867
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57539928 (SAS)
Genomes Max Group AF
0.57539928 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.198658398C>T , CM000664.2:g.198658398C>T | GRCh38 |
| NC_000002.11:g.199523122C>T , CM000664.1:g.199523122C>T | GRCh37 |
| NC_000002.10:g.199231367C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923758.1:n.73-78690G>A | ||
| XR_923759.1:n.73-78690G>A | ||
| XR_923760.1:n.73-78690G>A | ||
| XR_923759.2:n.73-78690G>A | ||
| XR_923760.2:n.73-78690G>A |