Canonical Allele Identifier:
CA15438649
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18155852 (AFR)
Genomes Max Group AF
0.18155852 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32945469C>T , CM000668.2:g.32945469C>T | GRCh38 |
| NC_000006.11:g.32913246C>T , CM000668.1:g.32913246C>T | GRCh37 |
| NC_000006.10:g.33021224C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429234.1:c.89-4654G>A | ENSP00000412457.1:n.89-4654G>A |