Canonical Allele Identifier:
CA15176236
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.7589996 (EAS)
Genomes Max Group AF
0.7589996 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19429543T>C , CM000664.2:g.19429543T>C | GRCh38 |
| NC_000002.11:g.19629304T>C , CM000664.1:g.19629304T>C | GRCh37 |
| NC_000002.10:g.19492785T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939779.1:n.495+20468A>G | ||
| XR_001739314.1:n.406+20468A>G | ||
| XR_939779.2:n.406+20468A>G |