Canonical Allele Identifier:
CA107754145
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8700629 (AFR)
Genomes Max Group AF
0.8700629 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.144601606T>A , CM000666.2:g.144601606T>A | GRCh38 |
| NC_000004.11:g.145522758T>A , CM000666.1:g.145522758T>A | GRCh37 |
| NC_000004.10:g.145742208T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649263.1:c.328-185628A>T | ENSP00000497507.1:n.328-185628A>T |