Canonical Allele Identifier:
CA13029451
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.91758716 (EAS)
Genomes Max Group AF
0.91758716 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37579556G>T , CM000671.2:g.37579556G>T | GRCh38 |
| NC_000009.11:g.37579553G>T , CM000671.1:g.37579553G>T | GRCh37 |
| NC_000009.10:g.37569553G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537239.2:c.282+9255C>A | ENSP00000457849.1:n.282+9255C>A | |
| ENST00000541804.1:n.62+9257C>A | ||
| ENST00000544475.5:n.122+9197C>A |