Canonical Allele Identifier:
CA146938019
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31007471 (AFR)
Genomes Max Group AF
0.31007471 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129551821G>T , CM000668.2:g.129551821G>T | GRCh38 |
| NC_000006.11:g.129872966G>T , CM000668.1:g.129872966G>T | GRCh37 |
| NC_000006.10:g.129914659G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_942984.1:n.396+721C>A | ||
| XR_942985.1:n.396+721C>A | ||
| XR_001743859.1:n.586+6237C>A | ||
| XR_001743860.1:n.586+6237C>A | ||
| XR_001743861.1:n.586+6237C>A | ||
| XR_001743863.1:n.586+6237C>A | ||
| XR_002956395.1:n.5509+721C>A |