Canonical Allele Identifier:
CA11703247
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47539691 (SAS)
Genomes Max Group AF
0.47539691 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.144564586C>T , CM000666.2:g.144564586C>T | GRCh38 |
| NC_000004.11:g.145485738C>T , CM000666.1:g.145485738C>T | GRCh37 |
| NC_000004.10:g.145705188C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649263.1:c.328-148608G>A | ENSP00000497507.1:n.328-148608G>A |