Canonical Allele Identifier:
CA177876015
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00077083 (AFR)
Genomes Max Group AF
0.00077083 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.57865559T>C , CM000670.2:g.57865559T>C | GRCh38 |
| NC_000008.10:g.58778118T>C , CM000670.1:g.58778118T>C | GRCh37 |
| NC_000008.9:g.58940672T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928921.1:n.346+941T>C | ||
| XR_928921.2:n.348+941T>C |