Canonical Allele Identifier:
CA11010514
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.80716265 (SAS)
Genomes Max Group AF
0.80716265 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44253811G>C , CM000664.2:g.44253811G>C | GRCh38 |
| NC_000002.11:g.44480950G>C , CM000664.1:g.44480950G>C | GRCh37 |
| NC_000002.10:g.44334454G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649044.1:c.1135-21693G>C | ENSP00000497083.1:n.1135-21693G>C |