Canonical Allele Identifier:
CA68272437
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92759448 (AFR)
Genomes Max Group AF
0.92759448 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.234948470A>G , CM000664.2:g.234948470A>G | GRCh38 |
| NC_000002.11:g.235857114A>G , CM000664.1:g.235857114A>G | GRCh37 |
| NC_000002.10:g.235521853A>G | NCBI36 |
| NG_033930.1:g.1487A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_924001.1:n.339-394A>G | ||
| XR_924002.1:n.339-394A>G | ||
| XR_924003.1:n.279-394A>G | ||
| XR_924004.1:n.339-394A>G | ||
| XR_924005.1:n.339-394A>G | ||
| XR_001739936.1:n.339-394A>G | ||
| XR_001739937.1:n.339-394A>G | ||
| XR_001739938.1:n.279-394A>G | ||
| XR_001739939.1:n.339-394A>G | ||
| XR_001739940.1:n.339-394A>G | ||
| XR_924001.2:n.339-394A>G |