Canonical Allele Identifier:
CA570432753
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00027985 (AFR)
Genomes Max Group AF
0.00027985 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.126514509C>G , CM000668.2:g.126514509C>G | GRCh38 |
| NC_000006.11:g.126835655C>G , CM000668.1:g.126835655C>G | GRCh37 |
| NC_000006.10:g.126877348C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650727.1:n.3037-16984G>C | ||
| ENST00000651326.1:n.2290-41915G>C | ||
| ENST00000652383.1:n.630+17154G>C | ||
| ENST00000652545.1:n.3347-16984G>C |