Canonical Allele Identifier:
CA12042406
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39311233 (AFR)
Genomes Max Group AF
0.39311233 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.171724227T>C , CM000667.2:g.171724227T>C | GRCh38 |
| NC_000005.9:g.171151231T>C , CM000667.1:g.171151231T>C | GRCh37 |
| NC_000005.8:g.171083836T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_941219.1:n.3633A>G | ||
| XR_941220.1:n.1956+1677A>G | ||
| XR_001742980.1:n.3391A>G | ||
| XR_001742981.1:n.3306A>G | ||
| XR_001742982.1:n.3179A>G | ||
| XR_001742983.1:n.1628+1677A>G | ||
| XR_001742984.1:n.3253A>G | ||
| XR_941218.2:n.2991A>G |