Canonical Allele Identifier:
CA284452170
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18502603 (AFR)
Genomes Max Group AF
0.18502603 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.77749683G>A , CM000678.2:g.77749683G>A | GRCh38 |
| NC_000016.9:g.77783580G>A , CM000678.1:g.77783580G>A | GRCh37 |
| NC_000016.8:g.76341081G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001752257.1:n.1489-6631C>T | ||
| XR_001752258.1:n.1640-6631C>T | ||
| XR_001752259.1:n.1377-6631C>T | ||
| XR_001752260.1:n.735-6631C>T | ||
| XR_001752263.1:n.152-6631C>T | ||
| XR_001752264.1:n.1066-6631C>T | ||
| XR_002957865.1:n.864-6631C>T | ||
| XR_002957866.1:n.864-6683C>T | ||
| XR_002957867.1:n.152-6683C>T |